Rare Disease Library

Eng-Strom syndrome

Short stature-locking fingers syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Ataxia-photosensitivity-short stature syndrome

Fenton-Wilkinson-Toselano syndrome

Cone rod dystrophy-short stature syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

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

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Malformation syndrome with short stature

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome