Rare Disease Library

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

CHARGE syndrome

CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Clark-Baraitser syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Hall-Riggs syndrome

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome

OBSOLETE: Chitty-Hall-Webb syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Sheldon-Hall syndrome

SSH · DA2B

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS