Oculo-palato-cerebral syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OPC DWARFISM
OCULOPALATOCEREBRAL DWARFISM
Oculo-palato-cerebral dwarfism
Number of Symptoms 37
OrphanetNr: 2714
OMIM Id: 257910
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
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
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
7
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
8
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
9
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
10
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
11
 (HPO:0007968) Remnants of the hyaloid vascular system 5 / 7739
12
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
13
 (HPO:0004327) Abnormality of the vitreous humor Very frequent [Orphanet] 14 / 7739
14
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
15
 (HPO:0000555) Leukocoria 5 / 7739
16
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
17
 (HPO:0011262) Crimped helix Frequent [Orphanet] 12 / 7739
18
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
19
 (HPO:0001257) Spasticity 251 / 7739
20
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
21
 (HPO:0001249) Intellectual disability 1089 / 7739
22
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
23
 (HPO:0001773) Short foot Very frequent [Orphanet] 86 / 7739
24
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
25
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
26
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
27
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
28
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
29
 (HPO:0100603) Toxemia of pregnancy Frequent [Orphanet] 7 / 7739
30
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (OMIM) Retrolental fibrovascular membrane 1 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
34
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
35
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
36
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by Pellegrino et al., 2001). ...
Clinical Description OMIM In 3 of 4 offspring of a consanguineous couple of Moroccan Jewish descent, Frydman et al. (1985) found microcephaly, mental retardation, spasticity, cleft palate, persistent hypertrophic primary vitreous (PHPV; see 611308), and short stature. PHPV may occur in ...