Developmental and genetic diseases

Genetic birth defects images - What's new

• May 13, 2011
  • Focal dermal hypoplasia - Eyes
  • Mental retardation, X-linked, with nystagmus
  • Septooptic dysplasia - Eyes
  • Spondylometaepiphyseal dysplasia, short limb-hand type
  • Vitreous cyst, congenital
• April 16, 2011
  • Aortic hypoplasia
  • Aortopulmonary window
  • Bronchial atresia - Prenatal diagnosis
  • Nasal pyriform aperture stenosis, congenital
  • Portal vein duplication
  • Pulmonary arteriovenous malformation - Prenatal diagnosis
  • Splenic duplication
  • Turricephaly
• April 12, 2011
  • Bipartite lunate, congenital
  • Chiari malformation type IV
  • Cockayne syndrome - Imaging
  • Lipomyelocele
  • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes - Histology

  • Myelocele

  • Myelocystocele, nonterminal

  • Myelocystocele, terminal

  • Neurenteric cyst
  • Segmental spinal dysgenesis
• March 28, 2011
  • Amyotrophic lateral sclerosis 1
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy - Histology
  • Ceroid lipofuscinosis, neuronal, 1
  • Charcot-Marie-Tooth disease, dominant intermediate B
  • Dystonia 1, torsion, autosomal dominant
  • Joubert syndrome - Prenatal diagnosis
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
  • Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
  • Myoclonic epilepsy associated with ragged-red fibers
  • Myopathy with lactic acidosis, hereditary
  • Myopathy, reducing body, X-linked, early-onset, severe
  • Spastic paraplegia 44, autosomal recessive
  • Spastic paraplegia 5A, autosomal recessive
  • Ventriculomegaly, fetal
• March 22, 2011
  • Alopecia areata - Histology
  • Muckle-Wells syndrome
  • Pituitary adenoma, growth hormone-secreting
  • Pituitary adenoma, prolactin-secreting
• March 19, 2011
  • Brittle cornea syndrome
  • Corneal dystrophy, Fuchs endothelial, 5
  • Corneal dystrophy, posterior amorphous
  • Dental ectopia
  • Nystagmus 6, congenital, X-linked
  • Oligocone trichromacy
  • Optic disc pit
  • Retinitis pigmentosa 33
• March 14, 2011
  • Ductus arteriosus agenesis
  • Microphthalmia, isolated, 7
• February 6, 2011
  • Bladder ears
  • Microdeletion 2q23.1 syndrome
  • Myopathy, centronuclear, autosomal recessive
  • Pectus excavatum - Imaging
  • Pontocerebellar hypoplasia type 1
  • Pontocerebellar hypoplasia type 2A
• January 7, 2011
  • Aicardi syndrome - Eyes
  • Alkaptonuria - Musculoskeletal system
  • Arterial calcification, generalized, of infancy - Imaging
  • Bardet-Biedl syndrome - Urogenital system
  • Intestinal malrotation - Imaging
  • Myoadenylate deaminase deficiency, myopathy due to
  • Myotonia congenita, autosomal recessive
  • Normokalemic periodic paralysis
• January 3, 2011
  • Aphalangia
  • Bronchus, tracheal - Imaging
  • Cherubism - Dental anomalies
  • Cleidocranial dysplasia - Dental anomalies
  • Crouzon syndrome - Imaging
  • Dens invaginatus
  • Encephalomyelocele
  • Glanzmann thrombasthenia - Dental anomalies
  • Goldenhar syndrome - Imaging
  • Griscelli syndrome - Dental anomalies
  • Hypodontia and hyperdontia, concomitant
  • Isochromosome 18
  • Pseudohypoparathyroidism, type Ia
  • Rubinstein-Taybi syndrome - Eyes
  • Sickle cell anemia - Dental anomalies
• December 31, 2010
  • Auricular detachment, congenital
  • Cleft lip nasal deformity
  • Complete cleft of the upper limb
  • Cowden disease - Dental anomalies
  • Fabry disease - Cardiovascular system
  • Fabry disease - Skeletal system
  • Facial arteriovenous malformation
  • Median facial dysplasia
  • Sotos syndrome - Imaging
  • Tessier number 3 cleft
  • Tessier number 4 cleft
  • Tessier number 7 cleft
• December 28, 2010
  • Birt-Hogg-Dube syndrome - Histology
  • Birt-Hogg-Dube syndrome - Imaging
  • Cutaneous lung tissue heterotopia
  • Cutis gyrata syndrome of Beare and Stevenson
  • Muscular dystrophy, limb-girdle, type 1B
  • Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome
• December 23, 2010
  • Anorectal anomalies - Imaging
  • Cornelia de Lange syndrome - Imaging
  • Cowden disease - Cardiovascular system
  • Cowden disease - Digestive system
  • Cowden disease - Eyes
  • Cowden disease - Nervous system
  • Cowden disease - Urogenital system
  • Iniencephaly - Prenatal diagnosis
  • Wilson disease - Cardiovascular system
• December 21, 2010
  • Prepubic sinus, congenital
  • Urethral duplication - Imaging
• December 18, 2010
  • Sirenomelia - Imaging
  • Ureteric valve
  • Zinner syndrome
• December 12, 2010
  • Apert syndrome - Dental anomalies
  • Apert syndrome - Imaging
  • Collagenosis, familial reactive perforating
  • Hypertrichosis universalis
  • Hypertrichosis, anterior cervical
  • Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
  • Pseudoxanthoma elasticum - Histology
  • Pseudoxanthoma elasticum - Imaging
  • Trichoepithelioma, multiple familial
  • Trichoepithelioma, multiple familial, 1
  • Woolly hair, autosomal recessive 2, with or without hypotrichosis
• December 9, 2010
  • Acrodermatitis enteropathica, zinc-deficiency type
  • Angioma, tufted
  • Blau syndrome
  • Gorlin syndrome - Histology
  • Peeling skin syndrome
  • Porokeratosis, disseminated superficial actinic, 4
  • Porokeratosis, palmar, plantar, and disseminated 1
• December 5, 2010
  • Fetus in fetu - Imaging
  • Keratosis follicularis spinulosa decalvans
  • Lateral meningocele syndrome
  • Tylosis with esophageal cancer
  • Ulnar hemimelia
• November 27, 2010
  • Arterial calcification, generalized, of infancy
  • Cystic eye, congenital
  • Esophageal atresia - Prenatal diagnosis
  • Infiltrating lipomatosis of the face, congenital
  • Melanosis, neurocutaneous - Nervous system
  • Pulmonary valve agenesis, Fallot tetralogy, absence of ductus arteriosus
  • Ribbing disease
  • Short bowel syndrome, congenital
  • Short rib-polydactyly syndrome, type II
• November 23, 2010
  • Anourethral fistula, congenital
  • Cervical spine pedicle, absent
  • Lymphatic malformation, cystic hygroma - Imaging
  • Marfanoid hypermobility syndrome
  • Otosclerosis - Imaging
• November 19, 2010
  • Afibrinogenemia, congenital
  • Duodenal diaphragm
  • Ellis-van Creveld syndrome - Imaging
  • Esophageal atresia - Imaging
  • Ileocecal atresia
  • Neutropenia, severe congenital, autosomal recessive 3
  • Neutropenia, severe congenital, autosomal recessive 4
  • PHACE association - Imaging
  • Proteus syndrome - Urogenital system
  • Rectal atresia
  • Thymus, accessory
  • Webbed penis
  • XXYY syndrome
• November 17, 2010
  • Androgen insensitivity, partial
  • Conjoined twins, dicephalus
  • Conjoined twins, parapagus
  • Conjoined twins, rachipagus
  • Conjoined twins, thoracoomphalopagus
  • Mixed gonadal dysgenesis
• November 16, 2010
  • Annular pancreas - Imaging
  • Blue rubber bleb nevus - Imaging
  • Burkitt lymphoma - Imaging
  • Chondrodysplasia, Grebe type
  • Emphysema, congenital lobar - Imaging
  • Hepatic pulmonary fusion
  • Hypoparathyroidism-retardation-dysmorphism syndrome
  • Jejunal duplication
  • Patent processus vaginalis
  • Persistent mullerian duct syndrome - Imaging
  • Syngnathia
  • Urethral fistula, congenital
• November 14, 2010
  • Galactokinase deficiency
  • Night blindness, congenital stationary, type 1C
  • Optic atrophy 7
  • Polycythemia vera
  • Retinitis pigmentosa 18
• November 11, 2010
  • Hyperphenylalaninemia, BH4-deficient, A
  • Macrophthalmia, colobomatous, with microcornea
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
  • Microspherophakia
  • Platyspondylic skeletal dysplasia, Torrance type
  • Retinal arteriolar tortuosity
  • Retinitis pigmentosa 2
  • Situs inversus of the optic disc
  • Vesicoureteral reflux - Imaging
  • Vitamin D-dependent rickets, type 2A
  • Weill-Marchesani syndrome, autosomal dominant
  • Wildervanck syndrome
• November 7, 2010
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • Axenfeld-Rieger syndrome, type 1
  • Axenfeld-Rieger syndrome, type 3
  • Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
  • Ciliary dyskinesia, primary, 1
  • Ciliary dyskinesia, primary, 2
  • Ciliary dyskinesia, primary, 3
  • Ciliary dyskinesia, primary, 4
  • Ciliary dyskinesia, primary, 5
  • Ciliary dyskinesia, primary, 6
  • Ciliary dyskinesia, primary, 7
  • Mayer-Rokitansky-Kuster-Hauser syndrome
  • Pulmonary hypertension, primary, 1
  • Pyloric stenosis, infantile hypertrophic
  • Retinitis pigmentosa 38
  • Retinitis pigmentosa 41
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
• November 4, 2010
  • Leukodystrophy, hypomyelinating, 2
  • Pituitary hormone deficiency, combined, 1
  • Pituitary hormone deficiency, combined, 2
  • Pituitary hormone deficiency, combined, 3
  • Pituitary hormone deficiency, combined, 4

• October 31, 2010

  • Acrocardiofacial syndrome
  • Darier disease - Eyes
  • Epileptic encephalopathy, early infantile, 1
  • Panhypopituitarism, X-linked

• October 6, 2010

  • Cutis laxa, autosomal recessive, type IIA
  • Diabetes insipidus, neurohypophyseal
  • Emery-Dreifuss muscular dystrophy, 1
  • Epidermolysis bullosa junctionalis with pyloric atresia
  • Epilepsy, myoclonic juvenile
  • Epiphyseal dysplasia, multiple, 6
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
  • Fibrosis of extraocular muscles, congenital, 3C
  • Focal cortical dysplasia of Taylor
  • Jalili syndrome
  • Kleefstra syndrome
  • Tooth agenesis, selective, 1
  • Tooth agenesis, selective, 2

• September 30, 2010

  • Acrania
  • Amelogenesis imperfecta, type IC
  • Anemia, dyserythropoietic congenital, type II
  • Hydrops fetalis of Bart
  • Leptomeningeal amyloidosis
  • Meroacrania
  • Retinitis pigmentosa 25
  • Trisomy X

• March 14, 2010

  • Atelosteogenesis

  • Coloboma of optic nerve

  • Holoprosencephaly 7

  • Kahrizi syndrome

  • Mental retardation syndrome, Mietens-Weber type

  • Mental retardation, X-linked 30

  • Microphthalmia, isolated, with coloboma 4

  • Spastic paraplegia 17

  • Three M syndrome 1

  • Weissenbacher-Zweymuller syndrome

• February 5, 2010

  • Klippel-Feil syndrome - Imaging

  • Loeys-Dietz syndrome - Imaging

  • Osteogenesis imperfecta - Imaging

  • Sacrococcygeal teratoma - Histology

  • Sacrococcygeal teratoma - Imaging

  • Ureteropelvic junction obstruction - Imaging

• February 3, 2010

  • Amniotic band syndrome - Prenatal diagnosis

  • Dystrophia myotonica - Eyes

  • Gaucher disease, type III

  • Tracheal agenesis

• January 29, 2010

  • Gorlin syndrome - Imaging

• December 26, 2009

  • Alport syndrome - Eyes

  • Amyloidosis, familial visceral

  • Amyotrophic lateral sclerosis - Imaging

  • Apolipoprotein A-I amyloidosis

  • Central core disease of muscle - Histology

  • Frontotemporal dementia - Histology

  • Meningomyelocele - Imaging

  • Meningomyelocele - Prenatal diagnosis

  • Myopathy, tubular aggregate

  • Neurofibromatosis, type II - Imaging

  • Trisomy 21 - Musculoskeletal system

• December 21, 2009

  • Adenomatous polyposis of the colon - Histology

  • Adenomatous polyposis of the colon - Imaging

  • Choledochal cyst - Imaging

  • Pancreas divisum - Imaging

• December 18, 2009

  • Aplasia cutis congenita - Histology

  • Berardinelli-Seip congenital lipodystrophy - Imaging

  • Bullous ichthyosiform erythroderma - Histology

  • Darier disease - Histology

  • Epidermodysplasia verruciformis - Histology

  • Fetus papyraceus

  • Graves ophthalmopathy - Histology

  • Graves ophthalmopathy - Imaging

  • Ichthyosis, lamellar

  • Maffucci syndrome - Histology

  • Maffucci syndrome - Imaging

  • McCune-Albright syndrome - Histology

  • McCune-Albright syndrome - Imaging

  • Multiple endocrine neoplasia, type I - Musculoskeletal system

  • Nasopalatine duct cyst

  • Neurofibromatosis, type I - Skin - Histology

  • Nijmegen breakage syndrome - Imaging

  • Pityriasis rubra pilaris - Histology

  • Preauricular fistulae, congenital

  • Proteus syndrome - Imaging

  • Schimmelpenning-Feuerstein-Mims syndrome - Imaging

  • Torg-Winchester syndrome

• December 13, 2009

  • Acanthosis nigricans - Histology

  • Alkaptonuria - Cardiovascular system

  • Benign chronic pemphigus - Histology

  • LEOPARD syndrome - Cardiovascular system

  • LEOPARD syndrome - Eyes

  • Lipoid proteinosis of Urbach and Wiethe - Histology

  • Lipoid proteinosis of Urbach and Wiethe - Imaging

  • Muir-Torre syndrome - Histology

  • Multiple endocrine neoplasia, type I - Cutaneous tumors

  • Porphyria cutanea tarda - Histology

  • Steatocystoma multiplex - Histology

  • Steatocystoma multiplex - Imaging

• December 11, 2009

  • Cystinuria

  • Kidney, multicystic dysplastic - Prenatal diagnosis

  • Polycystic kidney disease - Histology

  • Polycystic kidney disease - Imaging

  • Prune belly syndrome - Prenatal diagnosis

• December 7, 2009

  • Arthrogryposis, distal, type 1

  • Cerebrotendinous xanthomatosis - Imaging

  • CHARGE syndrome - Imaging

  • Cutis laxa, X linked

  • Nail-patella syndrome - Imaging

  • Sitosterolemia

  • Trismus-pseudocamptodactyly syndrome

• December 5, 2009

• Horseshoe kidney - Imaging

• November 24, 2009

  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy - Eyes

  • Charcot-Marie-Tooth disease, type 4J

  • GLUT1 deficiency syndrome

  • Porphyria variegata

  • Porphyria, acute intermittent

  • Xeroderma pigmentosum - Eyes

• November 22, 2009

  • Alexander disease - Prenatal diagnosis

  • Aortic arch, interrupted

  • Orofaciodigital syndrome VI

• November 3, 2009

  • Cerebral amyloid angiopathy, APP-related

  • Mitochondrial DNA depletion syndrome, hepatocerebral form, autosomal recessive

• October 16, 2009

  • Amyloidosis, primary cutaneous

  • Eruptive vellus hair cysts

  • Hemangioma, verrucous

  • Nail, ectopic

  • Nevus comedonicus

  • Sneddon syndrome

  • Syringomas, multiple

  • Xeroderma pigmentosum, variant type

• October 12, 2009

  • Hartnup disorder

  • Keloids

  • Retinitis pigmentosa 13

  • Sickle cell anemia - Eyes

  • Tay-Sachs disease - Eyes

• October 8, 2009

  • Bothnia retinal dystrophy

  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion: CHMRQ1

  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion: CHMRQ2

  • Corneal dystrophy, fleck

  • Corneal endothelial dystrophy 1

  • Corneal endothelial dystrophy 2

  • Jacobsen syndrome

  • Mental retardation, joint hypermobility, and skin laxity, with or without metabolic abnormalities

  • Nemaline myopathy 1

• July 1, 2009

  • Choledochal cyst - Prenatal diagnosis

  • Lipodystrophy, congenital generalized, type 3

  • Swyer syndrome

• April 19, 2009

  • Alkaptonuria - Eyes

  • Anencephaly - Prenatal diagnosis

  • Cholesteatoma, congenital

  • Ellis-van Creveld syndrome - Prenatal diagnosis

  • Encephalocele, frontal

  • Meconium peritonitis - Prenatal diagnosis

  • Meningoencephalocele - Prenatal diagnosis

  • Neurohypophysis, ectopic

  • Ureterocele - Prenatal diagnosis

• April 17, 2009

  • Acroosteolysis with osteoporosis and changes in skull and mandible

  • Aicardi-Goutieres syndrome 1

  • Beckwith-Wiedemann syndrome - Prenatal diagnosis

  • Congenital high airway obstruction syndrome - Prenatal diagnosis

  • Diastematomyelia - Prenatal diagnosis

  • Esophageal duplication - Prenatal diagnosis

  • Goldenhar syndrome - Dental anomalies

  • Goldenhar syndrome - Eyes

  • Klippel-Trenaunay-Weber syndrome - Prenatal diagnosis

  • Macrodystrophia lipomatosa

  • Meckel syndrome - Prenatal diagnosis

  • Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies

  • Sirenomelia - Prenatal diagnosis

  • Tracheobronchomegaly

  • Twin reversed arterial perfusion syndrome - Prenatal diagnosis

  • Wolf-Hirschhorn syndrome - Prenatal diagnosis

• April 14, 2009

  • Apert syndrome - Dental anomalies

  • Gallbladder duplication

  • Keratoderma, palmoplantar, with deafness

  • Teeth present at birth

  • Trichodentoosseous syndrome

• April 11, 2009

  • Auriculocondylar syndrome

  • Brooke-Spiegler syndrome

  • Epidermolysis bullosa dystrophica, pretibial

  • Hypophosphatasia

  • Nail dysplasia, isolated congenital

  • Sclerotylosis

• April 10, 2009

  • Baller-Gerold syndrome

  • Craniometaphyseal dysplasia, autosomal dominant

  • Ehlers-Danlos syndrome, type VI

  • Enlarged vestibular aqueduct

  • Hypomyelination and congenital cataract

  • Li-Fraumeni syndrome

  • Lubs X-linked mental retardation syndrome

  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

  • Shprintzen-Goldberg craniosynostosis syndrome

  • Timothy syndrome

  • Tyrosine transaminase deficiency

• April 5, 2009

  • Colonic varices without portal hypertension

  • Pancreas bifidum

• January 10, 2009

  • Cortical dysplasia of Taylor with balloon cells

  • Meningomyelocele - Histology

  • Prosopagnosia, hereditary

  • Retinitis pigmentosa 26

• January 5, 2009

  • Ectodermal dysplasia, hypohidrotic, X-linked - Dental anomalies

  • Ellis-van Creveld syndrome - Dental anomalies

  • Papillon-Lefevre syndrome - Dental anomalies

  • Sturge-Weber syndrome - Dental anomalies

• January 4, 2009

  • Cleft lip / cleft palate - Dental anomalies

  • Regional odontodysplasia

  • Tuberous sclerosis - Dental anomalies

• January 3, 2009

  • Carney-Stratakis syndrome

  • Combined oxidative phosphorylation deficiency 5

  • Czech dysplasia, metatarsal type

  • Duchenne muscular dystrophy - Histology

  • Trisomy 21 - Dental anomalies

  • Yakut short stature syndrome

• November 30, 2008

  • Aphallia

  • Lecithin:cholesterol acyltransferase deficiency

  • Sea-blue histiocyte disease

  • Senior-Loken syndrome

• November 20, 2008

  • Ectodermal dysplasia, hypohidrotic, autosomal dominant

  • Ectodermal dysplasia, hypohidrotic, autosomal recessive

  • Ectodermal dysplasia, hypohidrotic, X-linked

  • Encephalocraniocutaneous lipomatosis

  • Phacomatosis pigmentokeratotica

• November 1, 2008

  • ACTH-independent macronodular adrenal hyperplasia

  • Angioedema, hereditary

  • Biotinidase deficiency

  • Cholesteryl ester storage disease

  • Chylothorax, congenital

  • Cutis laxa, autosomal recessive, type II

  • Hyalinosis, infantile systemic

  • Immunodeficiency-centromeric instability-facial anomalies syndrome

  • L-2-hydroxyglutaric aciduria

  • Larsen-like syndrome, lethal type

  • Malaria, congenital

  • Pseudotrisomy 13 syndrome

  • Raine syndrome

  • Rickets, congenital

  • Sickle cell anemia - Musculoskeletal system

  • Trisomy 13q22, partial

  • Trisomy 22

  • Wolman disease

• October 11, 2008

  • Aortic arch, cervical

  • Congenitally corrected transposition of the great arteries

  • Extrahepatic portosystemic shunt, congenital

  • Hymen, imperforate

  • Loeys-Dietz syndrome

  • Pelvic digit

  • Seminal vesicle agenesis

  • Seminal vesicle cyst, congenital

  • Sickle cell anemia - Spleen

  • Transposition of the great arteries, dextro-looped 1

  • Transposition of the great arteries, dextro-looped 1 - Prenatal diagnosis

• October 6, 2008

  • Argininosuccinic aciduria

  • Celiac disease - Imaging

  • Ceroid lipofuscinosis, neuronal, 2

  • Myoclonic dystonia

  • Polyhydramnios, megalencephaly, and symptomatic epilepsy

  • Retinal dysplasia

• October 5, 2008

  • Brown syndrome

  • Cone-rod dystrophy 5

  • Congenital disorder of glycosylation, type IIe

  • Dihydropyrimidine dehydrogenase deficiency

  • Ichthyosis, congenital, autosomal recessive, ichthyin-related

  • Mungan syndrome

  • Noonan syndrome 4

  • Proteus-like syndrome

• September 12, 2008

  • Dental transposition

  • Oligodontia

  • Osteopetrosis, autosomal recessive 1

  • Osteopetrosis, autosomal recessive 3

  • Primary failure of eruption

• September 7, 2008

  • Abetalipoproteinemia

  • Mannosidosis, alpha B, lysosomal

  • Patent ductus venosus

  • Portal vein, congenital absence

  • Trichohepatoenteric syndrome

• August 11, 2008

  • Brachydactyly, type E

  • Dauwerse-Peters syndrome

  • Fibular hypoplasia and complex brachydactyly

  • Spondyloepimetaphyseal dysplasia, Genevieve type

  • Spondyloepimetaphyseal dysplasia, Strudwick type

  • Temtamy preaxial brachydactyly syndrome

• August 8, 2008

  • Asternia

  • Carney complex variant

  • Diaphragmatic agenesis

  • Hepatic lobe agenesis

  • Microphthalmia, isolated, 3

  • Pyle disease

  • Trisomy 9q, partial

• August 4, 2008

  • Achromatopsia

  • Glaucoma 1, open angle, H

  • Mismatch repair cancer syndrome

  • Peripapillary atrophy, beta type

  • Retinitis pigmentosa 31

  • Retinitis pigmentosa 37

  • Short rib-polydactyly syndrome, type IV

  • Sveinsson chorioretinal atrophy

  • Wolfram syndrome 1

• August 1, 2008

  • Craniodiaphyseal dysplasia

  • Epiblepharon of lower lid

  • Eversion of upper eyelids, congenital

  • Microphthalmia, syndromic 1

  • Microphthalmia, syndromic 2

  • Microphthalmia, syndromic 3

  • Morning glory disc anomaly

  • Weill-Marchesani syndrome

• July 28, 2008

  • Acne inversa, familial

  • Comedones, familial dyskeratotic

  • Epidermolysis bullosa dystrophica, autosomal dominant

  • Epidermolysis bullosa dystrophica, autosomal recessive

  • Epidermolysis bullosa pruriginosa

  • Hermansky-Pudlak syndrome 5

  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

• July 27, 2008

  • Ectodermal dysplasia/skin fragility syndrome

  • Epidermolysis bullosa simplex with migratory circinate erythema

  • Hemangioma, noninvoluting congenital

  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

  • Keratosis palmoplantaris striata I

  • Keratosis palmoplantaris striata II

  • Keratosis palmoplantaris striata III

• July 25, 2008

  • Glucocorticoid-remediable aldosteronism

  • Megaprepuce, congenital

  • Nephronophthisis

  • Polycystic kidney disease 2

  • Ureter, retrocaval

  • Urethral diverticulum, congenital

• July 19, 2008

  • Dyskeratosis congenita, autosomal dominant

  • Juvenile myelomonocytic leukemia

  • Pulmonary fibrosis, idiopathic

  • Surfactant metabolism dysfunction, pulmonary, 2

  • Thrombocythemia, essential

• July 16, 2008

  • Anemia, dyserythropoietic congenital, type I

  • Common variable immunodeficiency

  • Glucose-6-phosphate-dehydrogenase deficiency

  • Ovalocytosis, Southeast Asian

  • Renal arteriovenous malformation, congenital

  • Splenorenal fusion

• July 13, 2008

  • Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

  • Amelogenesis imperfecta, type IB

  • Charcot-Marie-Tooth disease, neuronal, type 2A2

  • Charcot-Marie-Tooth disease, neuronal, type 2F

  • Chondrodysplasia, Blomstrand type

  • Diploid/triploid mosaicism

  • Epidermolysis bullosa, junctional, non-Herlitz type

  • Limb-girdle muscular dystrophy, type 1G

  • Miyoshi myopathy

  • Muscular dystrophy, limb-girdle, type 2B

  • Nephropathy, progressive, with deafness

  • Optic atrophy 1 and deafness

  • Sex reversal, XY, without adrenal failure

• July 9, 2008

  • Charcot-Marie-Tooth disease, axonal, type 2E

  • Lingual hamartoma

  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria

  • Muscular dystrophy, limb-girdle, type 2L

  • Myasthenia, limb-girdle, familial

  • Myopathy, myofibrillar, ZASP-related

  • Pulmonary atresia with intact ventricular septum

  • Pulmonary atresia with intact ventricular septum - Prenatal diagnosis

  • Scapuloperoneal syndrome, neurogenic, Kaeser type

• June 16, 2008

  • Glucocorticoid deficiency 2

  • Herpes simplex virus infection, congenital

  • Mucopolysaccharidosis, type VII

  • Pallister-Killian syndrome

• June 9, 2008

  • Neuroblastoma - Histology

  • Neuroblastoma - Imaging

• June 2, 2008

  • Acephaly

  • Angioma serpiginosum, X-linked

  • Aortic arch, double - Prenatal diagnosis

  • Cocaine exposure, prenatal

  • Exudative vitreoretinopathy, familial, X-linked recessive

  • Hemifacial microsomia with radial defects

  • Renal-hepatic-pancreatic dysplasia

  • Telangiectasia, hereditary hemorrhagic - Cardiovascular system

• March 17, 2008

  • Anemia, sideroblastic, and spinocerebellar ataxia

  • Charcot-Marie-Tooth disease, X-linked recessive 5

  • Congenital disorder of glycosylation, type IIh

  • Larsen syndrome, autosomal dominant

  • Lesch-Nyhan syndrome

  • Lethal congenital contractural syndrome 3

  • Mental retardation, X-linked 93

  • Mitochondrial myopathy and sideroblastic anemia

  • Pitt-Rogers-Danks syndrome

• January 29, 2008

  • Aicardi-Goutieres syndrome 5

  • Beta-hydroxyisobutyryl CoA deacylase, deficiency of

  • Brachydactyly, type B2

  • Carpenter syndrome

  • Cerebrooculofacioskeletal syndrome 2

  • Cerebrooculofacioskeletal syndrome 4

  • Combined oxidative phosphorylation deficiency 1

  • Congenital disorder of glycosylation, type Im

  • Cornelia de Lange syndrome 3

  • Crisponi syndrome

  • Deafness, congenital, with inner ear agenesis, microtia, and microdontia

  • Diphallus

  • Ichthyosis with hypotrichosis, autosomal recessive

  • Joubert syndrome 5

  • Meckel syndrome, type 4

  • Mental retardation, X-linked, with short stature, small testes, muscle wasting, and tremor

  • Microcephaly, primary autosomal recessive, 3

  • Microphthalmia, syndromic 9

  • Mid-ureteral stricture, congenital

  • Nemaline myopathy 7

  • Phosphoserine aminotransferase deficiency

  • Pitt-Hopkins syndrome

  • Potocki-Lupski syndrome

  • Renal hamartomas, nephroblastomatosis, and fetal gigantism

  • Split-hand/foot malformation with long bone deficiency 1

  • Syndactyly, type V

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Edited by Aldo Campana,