Rare Disease Library

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Achalasia-microcephaly syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Arrhinia-choanal atresia-microphthalmia syndrome

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Fryns-Smeets-Thiry 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

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

Micro syndrome

WARBM · Warburg micro syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

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

Microphthalmia, Lenz type

Lenz microphthalmia

MMEP syndrome

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

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Behrens-Baumann-Vogel syndrome · OBSOLETE: Microphthalmia-optic nerve aplasia syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

Syndromic microspherophakia

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome