Oculocerebrofacial syndrome, Kaufman type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 58 |
| OrphanetNr: | 2707 |
| OMIM Id: |
244450
|
| ICD-10: |
Q87.0 |
| UMLs: |
C1855663 |
| MeSH: |
C537013 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 9 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease 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 developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000057) | Clitoromegaly | 30 / 7739 | ||||
|
|
(HPO:0010458) | Female pseudohermaphroditism | Occasional [Orphanet] | 17 / 7739 | |||
|
|
(HPO:0000233) | Thin vermilion border | Frequent [Orphanet] | 124 / 7739 | |||
|
|
(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
|
|
(HPO:0000319) | Smooth philtrum | 72 / 7739 | ||||
|
|
(HPO:0000691) | Microdontia | Frequent [Orphanet] | 104 / 7739 | |||
|
|
(HPO:0000218) | High palate | 356 / 7739 | ||||
|
|
(HPO:0003196) | Short nose | 264 / 7739 | ||||
|
|
(HPO:0000276) | Long face | Frequent [Orphanet] | 109 / 7739 | |||
|
|
(HPO:0000581) | Blepharophimosis | Frequent [Orphanet] | 197 / 7739 | |||
|
|
(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
|
|
(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
|
|
(HPO:0000288) | Abnormality of the philtrum | Frequent [Orphanet] | 54 / 7739 | |||
|
|
(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0000154) | Wide mouth | Frequent [Orphanet] | 137 / 7739 | |||
|
|
(HPO:0000275) | Narrow face | Frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0000322) | Short philtrum | Frequent [Orphanet] | 130 / 7739 | |||
|
|
(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
|
|
(HPO:0000699) | Diastema | 10 / 7739 | ||||
|
|
(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
|
|
(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
|
|
(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
|
|
(HPO:0000219) | Thin upper lip vermilion | 112 / 7739 | ||||
|
|
(HPO:0000508) | Ptosis | 459 / 7739 | ||||
|
|
(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
|
|
(HPO:0000610) | Abnormality of the choroid | Occasional [Orphanet] | 11 / 7739 | |||
|
|
(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000482) | Microcornea | Frequent [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0000543) | Optic disc pallor | 67 / 7739 | ||||
|
|
(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0001833) | Long foot | Very frequent [Orphanet] | 33 / 7739 | |||
|
|
(HPO:0001591) | Bell-shaped thorax | 35 / 7739 | ||||
|
|
(HPO:0003300) | Ovoid vertebral bodies | 21 / 7739 | ||||
|
|
(HPO:0004283) | Narrow palm | 8 / 7739 | ||||
|
|
(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
|
|
(HPO:0011302) | Long palm | Very frequent [Orphanet] | 70 / 7739 | |||
|
|
(HPO:0001840) | Metatarsus adductus | 49 / 7739 | ||||
|
|
(HPO:0004209) | Clinodactyly of the 5th finger | 288 / 7739 | ||||
|
|
(HPO:0002019) | Constipation | 194 / 7739 | ||||
|
|
(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
|
|
(HPO:0006511) | Laryngeal stridor | 6 / 7739 | ||||
|
|
(HPO:0002643) | Neonatal respiratory distress | 22 / 7739 | ||||
|
|
(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
|
(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
|
|
(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
|
|
(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
|
|
(OMIM) | Long thin feet (rare) | 2 / 7739 | ||||
|
|
(OMIM) | Severe constipation | 2 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Long thin hands (rare) | 3 / 7739 | ||||
|
|
(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Kaufman et al. (1971) described a distinctive syndrome in 4 of 7 sibs. Significant positive and negative features included intrauterine and postnatal growth retardation, microcephaly with mental retardation but no gross neurologic abnormalities or seizures, hypertelorism with epicanthi, ... |