Rare Disease Library

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

Familial cylindromatosis

Turban tumor syndrome

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Hereditary mucoepithelial dysplasia

Urban-Schosser-Spohn syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome