Pterygium colli-intellectual disability-digital anomalies syndrome
Synonyms: Khalifa-Graham syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pterygium colli-intellectual disability-digital anomalies syndrome | Khalifa-Graham syndrome |
| fr | Syndrome de pterygium colli-déficience intellectuelle-anomalies des doigts | Syndrome de Khalifa-Graham |
| de | Pterygium colli-Intelligenzminderung-Fingeranomalien-Syndrom | Khalifa-Graham-Syndrom |
| es | Síndrome de pterygium colli-discapacidad intelectual-anomalías digitales | Síndrome de Khalifa-Graham |
| it | Sindrome pterigio del collo-disabilità intellettiva-anomalie delle dita | Sindrome di Khalifa-Graham |
| nl | Pterygium colli - intellectuele achterstand - digitale anomalieën-syndroom | Syndroom van Khalifa-Graham |
| pt | Síndrome de pterígio do pescoço-perturbação do desenvolvimento intelectual-anomalias digitais | Síndrome Khalifa-Graham |
| pl | Płetwistość szyi -niepełnosprawność intelektualna - anomalie palców | Zespół Khalifa i Grahama |
| cs | Syndrom zahrnující pterygium colli, mentální retardaci a anomálie prstů ruky | Khalifův-Grahamové syndrom · Khalifa-Grahamové syndrom |
| uk | Синдром птерігіум інтелектуальної недостатності-аномалій пальців | Синдром Халіфа-Грема |
| zh | 翼状颈-智力障碍-指异常综合征 | Khalifa-Graham综合征 |
| tr | Piterjiyum colli-zihinsel yetersizlik-dijital anomaliler sendromu | Khalifa-Graham sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600159 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0010835 | E | validated | |
| MeSH | C535831 | E | validated | |
| UMLS | C1838562 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7977463[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7977463[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2017-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0009662 | Abnormality of the epiphysis of the distal phalanx of the thumb | |
| HP:0000248 | Brachycephaly | |
| HP:0009836 | Broad distal phalanx of finger | |
| HP:0006247 | Enlarged interphalangeal joints | |
| HP:0000537 | Epicanthus inversus | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0025538 | Palmar edema | |
| HP:0025537 | Plantar edema | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000508 | Ptosis | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7977463[PMID]_4075567[PMID]_7205502[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2988
- This record as JSON: /data/d/2988.json