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Differential Diagnosis For Craniofacial Abnormalities/Congenital: Hereditary, Familial, Genetic Disorders


List of current finding(s):

Hereditary, Familial, Genetic Disorders: next: Degenerative-Age Related Causes
Basal cell nevus syndrome (Gorlin)
Cleidocranial digital dysostosis
Fragile X syndrome/X-linked retardation
Nephritis, hereditary (Alports)
Osteogenesis imperfecta
Chromosome 22q13.3 deletion syndrome (22q13.3)
Jackson-Weiss Craniosynostosis syndrome
Jarcho-Levin Spondylocostal dysplasia Syndrome
Johanson Blizzard genetic syndrome (unco)
Juberg Marsidi Genetic syndrome (unco)
Myhre Syndrome
Neonatal Progeria Familial (Wiedemann)
Pitt syndrome (4p16.3)
Pallister Hall Syndrome
Pallister W Syndrome
Acrocephalosyndactyly type III syndrome
Apert syndrome
Bird-headed dwarf of Seckel
Borjeson-Forssman-Lehmann Syn/BFLS (xq26.3)
Cockayne syndrome
Cryptophthalmos (Fraser) syndrome
Dolichospondylic dysplasia
Facial ectodermal dysplasia (Setleis)
Facioscapulohumeral muscular dystrophy
Hypothalamic hypogonadism, Kallman's
Lipodystrophy, generalized
Myotonia atrophica (Steinert's disease)
Oculocerebrorenal dystrophy/Lowe syndrome
Osteodysplasia, familial (Melnick Needles)
Schwartz-Jampel syndrome
Scott's Craniodigital syndrome
SHORT syndrome (Rieger anomaly plus)
Simpson dysmorphia syndrome
Smith-Lemli-Opitz syndrome
Stickler syndrome
Treacher Collins syndrome
Waardenburg-Klein syndrome
Williams syndrome/Elfin facies
Winchester syndrome
18p chromosome deletion complex
Abducted thumbs syndrome
Acrocallosal syndrome (ACS)
Adducted thumbs-Mental retardation syndrome
Brooks syndrome
Chromosome 20 deletion/Ring syndrome
Chudley Syndrome 1
Craniofrontonasal Syndrome (CFNS)
Curran acrorenal syndrome
Faciocardiorenal Syndrome (Eastman-Bixler)
Kabuki make-up syndrome
Michelin tire baby syndrome
Neu Laxova Syndrome
Neuhauser Syndrome
Orocraniodigital (Juberg-Hayward) Syndrome
Say Syndrome 1