Anophthalmia/microphthalmia - esophageal atresia

General Information (adopted from Orphanet):

Synonyms, Signs: AEG SYNDROME OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED
MCOPS3
ANOPHTHALMIA, CLINICAL, WITH ASSOCIATED ANOMALIES
ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME
MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME
Syndromic microphthalmia type 3
Number of Symptoms 52
OrphanetNr: 77298
OMIM Id: 206900
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Genetic syndromic esophageal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic esophageal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
(HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
(HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
5
(HPO:0000028) Cryptorchidism 347 / 7739
6
(HPO:0000568) Microphthalmia 183 / 7739
7
(HPO:0000528) Anophthalmia 42 / 7739
8
(HPO:0002007) Frontal bossing 366 / 7739
9
(HPO:0000252) Microcephaly 832 / 7739
10
(HPO:0000647) Sclerocornea Occasional [Orphanet] 25 / 7739
11
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
12
(HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
13
(HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
14
(HPO:0000609) Optic nerve hypoplasia 26 / 7739
15
(HPO:0000589) Coloboma 47 / 7739
16
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
17
(HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
18
(HPO:0001328) Specific learning disability 114 / 7739
19
(HPO:0001263) Global developmental delay 853 / 7739
20
(HPO:0002444) Hypothalamic hamartoma 5 / 7739
21
(HPO:0002510) Spastic tetraplegia 54 / 7739
22
(HPO:0001264) Spastic diplegia 24 / 7739
23
(HPO:0010627) Anterior pituitary hypoplasia 6 / 7739
24
(HPO:0008417) Vertebral hypoplasia 6 / 7739
25
(HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
26
(HPO:0002937) Hemivertebrae 41 / 7739
27
(HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
28
(HPO:0002948) Vertebral fusion 28 / 7739
29
(HPO:0003316) Butterfly vertebrae 6 / 7739
30
(HPO:0000902) Rib fusion 19 / 7739
31
(HPO:0005815) Supernumerary ribs 9 / 7739
32
(HPO:0002032) Esophageal atresia 19 / 7739
33
(HPO:0002575) Tracheoesophageal fistula Very frequent [Orphanet] 54 / 7739
34
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
35
(HPO:0004322) Short stature 1232 / 7739
36
(HPO:0008897) Postnatal growth retardation 113 / 7739
37
(HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
38
(HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
39
(HPO:0001324) Muscle weakness 859 / 7739
40
(HPO:0001252) Muscular hypotonia 990 / 7739
41
(HPO:0010547) Muscle flaccidity 466 / 7739
42
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
43
(OMIM) Mesial temporal brain malformations 1 / 7739
44
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
45
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
46
(OMIM) Multiple supernumerary teeth (rare) 1 / 7739
47
(HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
48
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
49
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
50
(HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
51
(OMIM) Reduction of white matter, generalized 1 / 7739
52
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal ...
Clinical Description OMIM Rogers (1988) reported an 11-month-old male infant with bilateral clinical anophthalmia, esophageal atresia with tracheoesophageal fistula, and glanular hypospadias. The patient was noted to have normal intellectual development but delayed motor development. Arroyo et al. (1992) reported a ...
Genotype-Phenotype Correlations OMIM Schneider et al. (2009) screened the SOX2 gene in 51 unrelated patients with clinical anophthalmia and/or microphthalmia and identified heterozygous SOX2 mutations in 10 of them, including 3 patients with the recurrent 20-bp deletion (70del20; 184429.0010). Analysis of ...
Molecular genetics OMIM In the female infant reported by Driggers et al. (1999) with bilateral clinical anophthalmia and a de novo t(3;11)(q27;p11.2), Fantes et al. (2003) identified a submicroscopic deletion at the 3q breakpoint, containing the SOX2 gene. By subsequent SOX2 ...