Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Synonyms: Hamamy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome | Hamamy syndrome |
| fr | Syndrome de dysmorphie faciale-anomalies oculaires-ostéopénie-déficience intellectuelle-anomalies dentaires | Syndrome de Hamamy |
| de | Gesichtsdysmorphie-okuläre Anomalien-Osteopenie-Intelligenzminderung-Zahnanomalien-Syndrom | Hamamy-Syndrom |
| es | Síndrome de dismorfia facial-anomalías oculares-osteopenia-discapacidad intelectual-anomalías dentarias | Síndrome de Hamamy |
| it | Sindrome da dismorfismi facciali-miopia grave-osteopenia-disabilità intellettiva-anomalie dei denti | Sindrome di Hamamy |
| nl | Faciale dysmorfie - oculaire anomalieën - osteopenie - intellectuele achterstand - dentale anomalieën-syndroom | Syndroom van Hamamy |
| pt | Síndrome de dismorfia facial-anomalias oculares-osteopenia-perturbação do desenvolvimento intelectual-anomalias dentárias | Síndrome Hamamy |
| pl | Zespół dysplazja twarzowo-czaszkowa-osteopenia | Zespół Hamamy · Zespół dysmorfii twarzy-ciężkiej krótkowzroczności-osteopenii-niepełnosprawności intelektualnej-wad zębów · Zespół dysmorfii twarzy-wad oczu-osteopenii-niepełnosprawności intelektualnej-wad zębów |
| cs | Syndrom zahrnující obličejový dysmorfismus, těžkou myopii, osteopenii, mentální retardaci a zubní anomálie | Hamamyové syndrom · Syndrom zahrnující kraniofaciální dysplázii a osteopenii |
| uk | Синдром дисморфізму обличчя-аномалії очей-остеопенії-інтелектуальної недостатності-зубних аномалій | Синдром Хамамі |
| zh | 颅面发育不良-骨质减少综合征 | Hamamy综合征 |
| tr | Kraniofasiyal displazi-osteopeni sendromu | Hamamy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611174 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0012634 | E | validated | |
| MONDO | 12634 | E | validated | |
| MeSH | C566988 | E | validated | |
| UMLS | C1970027 | 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 (7):
- ORPHA:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:519329Rare disorder involving multiple structures of the eye
rare ophthalmic disorders - ORPHA:522578Rare genetic disorder involving multiple structures of the eye
rare genetic diseases - ORPHA:420755Rare genetic odontal or periodontal disorder
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:91133OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:14361 | ENSG00000176842 | 606195 | 16q12.2 | iroquois homeobox 5 | 22581230[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22581230[PMID] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314555
- This record as JSON: /data/d/314555.json