Rare Disease Library

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Andersen-Tawil syndrome

Andersen syndrome · LQT7

Angora hair nevus

Schauder syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

C syndrome

OTCS · Opitz C trigonocephaly

CANOMAD syndrome

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

Cantú syndrome

Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum

CHAND syndrome

Baughman syndrome · CHANDS

Chandler syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Duane retraction syndrome

DRS · DURS

Grant syndrome

H syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Laurin-Sandrow syndrome

Mirror hands and feets-nasal defects syndrome · Sandrow syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Microcephalic osteodysplastic primordial dwarfism types I and III

MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Otodental syndrome

Globodontia · Otodental dysplasia

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Sandifer syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Trichodental syndrome

Kersey syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome