Rare Disease Library

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

3M syndrome

3-M syndrome · Yakut short stature syndrome

Achalasia-microcephaly syndrome

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Aphalangy-syndactyly-microcephaly syndrome

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Frydman-Cohen-Karmon syndrome

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

Brachydactyly-preaxial hallux varus syndrome

Brachydactyly-short stature-retinitis pigmentosa syndrome

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Hydrocephaly-tall stature-joint laxity syndrome

Daish-Hardman-Lamont syndrome

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

15q26.3 microdeletion syndrome

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Microbrachycephaly-ptosis-cleft lip syndrome

Richieri Costa-Guion Almeida-Ramos syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Mikati-Najjar-Sahli syndrome

Microcephaly-hypergonadotropic hypogonadism-short stature syndrome

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

Short rib-polydactyly syndrome

Short stature-brachydactyly-obesity-global developmental delay syndrome

SBIDDS

Sillence syndrome

Brachydactyly-symphalangism syndrome

Syndrome with microcephaly as a major feature

Temtamy preaxial brachydactyly syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome