Pterygium colli - intellectual deficit - digital anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Khalifa-Graham syndrome |
| Number of Symptoms | 31 |
| OrphanetNr: | 2988 |
| OMIM Id: |
600159
|
| ICD-10: |
Q87.0 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal dominant X-linked dominant [Orphanet] |
| Age of onset: |
Childhood [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 |
Symptom Information:
|
|
(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0012098) | Edema of the dorsum of feet | 3 / 7739 | ||||
|
|
(HPO:0007514) | Edema of the dorsum of hands | 7 / 7739 | ||||
|
|
(HPO:0001004) | Lymphedema | Very frequent [Orphanet] | 62 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
|
|
(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
|
|
(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0009836) | Broad distal phalanx of finger | 8 / 7739 | ||||
|
|
(HPO:0100759) | Clubbing of fingers | Very frequent [Orphanet] | 40 / 7739 | |||
|
|
(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
|
|
(HPO:0009623) | Proximal placement of thumb | Very frequent [Orphanet] | 50 / 7739 | |||
|
|
(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
|
|
(HPO:0000341) | Narrow forehead | Very frequent [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
|
|
(HPO:0002553) | Highly arched eyebrow | Very frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
|
|
(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
|
|
(HPO:0000537) | Epicanthus inversus | 7 / 7739 | ||||
|
|
(HPO:0000465) | Webbed neck | Very frequent [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
|
|
(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
|
|
(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(OMIM) | Angulated eyebrows | 1 / 7739 | ||||
|
|
(OMIM) | Edema of the dorsum of hands and feet | 1 / 7739 | ||||
|
|
(OMIM) | Proximally displaced small thumbs | 1 / 7739 | ||||
|
|
(OMIM) | Widened interphalangeal joints | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|