Rare Disease Library

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Aphalangy-syndactyly-microcephaly syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Ectrodactyly-polydactyly syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Greig cephalopolysyndactyly syndrome

GCPS

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypopituitarism-microphthalmia syndrome

Kaplowitz-Bodurtha syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Microphthalmia-microtia-fetal akinesia syndrome

Thomas-Jewett-Raines syndrome

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

Non-syndromic syndactyly

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

Syndactyly-polydactyly-ear lobe syndrome

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

Timothy syndrome

LQT8 · Long QT syndrome type 8