Rare Disease Library

Cutaneous mastocytosis-deafness-microtia syndrome

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

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XX ovarian dysgenesis-short stature syndrome

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-deafness syndrome · CATSHL syndrome

Cone rod dystrophy-short stature syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

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

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Eng-Strom syndrome

Short stature-locking fingers syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Malformation syndrome with short stature

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Thong-Douglas-Ferrante syndrome · Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome