Rare Disease Library

Timothy syndrome

LQT8 · Long QT syndrome type 8

Andersen-Tawil syndrome

Andersen syndrome · LQT7

Aphalangy-syndactyly-microcephaly syndrome

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

Cenani-Lenz syndrome

Cenani syndactyly · Cenani-Lenz syndactyly

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Congenital long QT syndrome

Congenital LQTS

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Ectrodactyly-polydactyly syndrome

Eyebrow duplication-syndactyly syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Furlong syndrome

Marfanoid habitus-craniosynostosis syndrome

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Greig cephalopolysyndactyly syndrome

GCPS

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

Jung syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Mesoaxial synostotic syndactyly with phalangeal reduction

MSSD · Syndactyly type 9

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

Non-syndromic polydactyly

Non-syndromic syndactyly

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

Ptosis-syndactyly-learning difficulties syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Short rib-polydactyly syndrome

Spondylocamptodactyly syndrome

Syndactyly type 1

Syndactyly type 2

Synpolydactyly

Syndactyly type 3

SD3 · Syndactyly of fingers 4 and 5

Syndactyly type 4

Polysyndactyly, Haas type

Syndactyly type 5

Postaxial syndactyly with metacarpal synostosis · SD5

Syndactyly type 6

Mitten hand · Syndactyly, mitten type

Syndactyly type 8

Fusion of metacarpals 4 and 5

Syndactyly-polydactyly-ear lobe syndrome