MMEP syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MCOPS8
MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM
MMEP
Viljoen-Smart syndrome
Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
Syndromic microphthalmia type 8
Number of Symptoms 25
OrphanetNr: 3434
OMIM Id: 601349
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
4
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
5
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
8
 (HPO:0000581) Blepharophimosis 197 / 7739
9
 (HPO:0000568) Microphthalmia 183 / 7739
10
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
11
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
12
 (HPO:0000482) Microcornea 102 / 7739
13
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0001839) Split foot 28 / 7739
16
 (HPO:0010760) Absent toe Very frequent [Orphanet] 15 / 7739
17
 (HPO:0100678) Premature skin wrinkling 25 / 7739
18
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
19
 (HPO:0012745) Short palpebral fissure 47 / 7739
20
 (OMIM) Ectrodactyly of feet 3 / 7739
21
 (OMIM) Premature skin aging 1 / 7739
22
 (OMIM) Borderline microcephaly 3 / 7739
23
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
24
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739
25
 (OMIM) De novo translocation 46,XX,t(6,13)(q21,q12) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Viljoen and Smart (1993) described a woman with mental retardation, borderline microcephaly, microphthalmia, prognathism, cleft lip and palate, ectrodactyly of the feet, and premature aging of the skin. Her karyotype showed a de novo translocation 46,XX,t(6;13)(q21;q12).

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