ORPHA:198
Occipital horn syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Occipital horn syndrome | |
| fr | Syndrome de la corne occipitale | |
| de | Okzipitalhorn-Syndrom | |
| es | Síndrome del cuerno occipital | |
| it | Sindrome del corno occipitale | |
| nl | Occipitale hoorn-syndroom | |
| pt | Síndrome corno occipital | |
| pl | Zespół rogu potylicznego | |
| cs | Syndrom okcipitálního rohu | EDS IX · X-vázaná cutis laxa · Ehlersův-Danlosův syndrom, typ 9 · Ehlersův-Danlosův syndrom, typ IX · Ehlers-Danlosův syndrom, typ 9 · Ehlers-Danlosův syndrom, typ IX |
| uk | Синдром потиличного рогу | |
| zh | 枕骨角综合征 | 埃勒斯-丹洛斯综合征IX型 |
| tr | Oksipital boynuz sendromu | EDS IX · X'e bağlı kutis laksa · Ehlers-Danlos sendromu tip 9 · Ehlers-Danlos sendromu tip IX |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304150 | E | validated | |
| ICD-10 | E83.0 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0010572 | E | validated | |
| MeSH | C537860 | E | validated | |
| UMLS | C0268353 | E | validated | |
| GARD | 4017 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - 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 - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP7A | Disease-causing germline mutation(s) in | Assessed | HGNC:869 | ENSG00000165240 | 300011 | Xq21.1 | ATPase copper transporting alpha | 20301586[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
70 annotations · validated 2017-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0002514 | Cerebral calcification | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0100777 | Exostoses | |
| HP:0001263 | Global developmental delay | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000239 | Large fontanelles | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0025270 | Abnormal esophagus physiology | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0001156 | Brachydactyly | |
| HP:0000978 | Bruising susceptibility | |
| HP:0001396 | Cholestasis | |
| HP:0002617 | Dilatation | |
| HP:0002015 | Dysphagia | |
| HP:0100633 | Esophagitis | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002578 | Gastroparesis | |
| HP:0012115 | Hepatitis | |
| HP:0002036 | Hiatus hernia | |
| HP:0002705 | High, narrow palate | |
| HP:0002045 | Hypothermia | |
| HP:0001252 | Hypotonia | |
| HP:0000952 | Jaundice | |
| HP:0010562 | Keloids | |
| HP:0000343 | Long philtrum | |
| HP:0002749 | Osteomalacia | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000926 | Platyspondyly | |
| HP:0002033 | Poor suck | |
| HP:0002748 | Rickets | |
| HP:0100699 | Scarring | |
| HP:0004279 | Short palm | |
| HP:0100240 | Synostosis of joints | |
| HP:0005293 | Venous insufficiency | |
| Occasional (29-5%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0003172 | Abnormality of the pubic bone | |
| HP:0009556 | Absent tibia | |
| HP:0006507 | Aplasia/hypoplasia of the humerus | |
| HP:0006660 | Aplastic clavicles | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0000015 | Bladder diverticulum | |
| HP:0002208 | Coarse hair | |
| HP:0002673 | Coxa valga | |
| HP:0002812 | Coxa vara | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100541 | Femoral hernia | |
| HP:0002857 | Genu valgum | |
| HP:0000348 | High forehead | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0003874 | Humerus varus | |
| HP:0000023 | Inguinal hernia | |
| HP:0002808 | Kyphosis | |
| HP:0008818 | Large iliac wings | |
| HP:0000774 | Narrow chest | |
| HP:0002797 | Osteolysis | |
| HP:0001763 | Pes planus | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0100874 | Thick hair | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20301586[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/198
- This record as JSON: /data/d/198.json