Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Synonyms: Multiple epiphyseal dysplasia, Al-Gazali type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and <i>genu valgum</i>. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and <i>pectus excavatum</i>.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome | Multiple epiphyseal dysplasia, Al-Gazali type |
| fr | Syndrome de dysplasie épiphysaire multiple-macrocéphalie-dysmorphie faciale | Dysplasie épiphysaire multiple type Al-Gazali |
| de | Multiple epiphysäre Dysplasie-Makrozephalie-Gesichtsdysmorphie-Syndrom | Dysplasie, epiphysäre multiple, Typ Al-Gazali |
| es | Síndrome de displasia epifisaria múltiple-macrocefalia-dismorfia facial | Displasia epifisaria múltiple tipo Al-Gazali |
| it | Sindrome displasia epifisaria multipla-macrocefalia-dismorfismi facciali | Displasia epifisaria multipla, tipo Al Gazali · Displasia epifisaria multipla, tipo Al-Gazali |
| nl | Multipele epifysaire dysplasie - macrocefalie - faciale dysmorfie-syndroom | Multipele epifysaire dysplasie, Al-Gazali-type |
| pt | Síndrome de displasia epifisária múltipla-macrocefalia-dismorfia facial | Displasia epifisária múltipla, tipo Al-Gazali |
| pl | Dysplazja wielonasadowa, typ Al-Gazali | Zespół dysplazji wielonasadowej, wielkogłowia i dysmorfii twarzy |
| cs | Mnohočetná epifyzární dysplázie, Al-Gazaliové typ | Syndrom zahrnující mnohočetnou epifyzární dysplázii, makrocefalii a specifický faciální dysmorfismus |
| uk | Синдром множинної епіфізарної дисплазії-макроцефалії-лицевого дизморфізму | Множинна епіфізарна дисплазія типу Аль-Газалі · Множинна епіфізарна дисплазія, тип Аль-Газалі |
| zh | Al-Gazali型多发性骨骺发育不良 | 多发性骨骺发育不良-大头畸形-特征性面容综合征 |
| tr | Çoklu epifiz displazisi, Al-Gazali tipi | çoklu epifizeal displazi-makrosefali-karakteristik yüz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607131 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | index | validated |
| MONDO | 0011778 | E | validated | |
| UMLS | C4304500 | 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 (1):
- ORPHA:251Multiple epiphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF7 | Disease-causing germline mutation(s) in | Assessed | HGNC:30497 | ENSG00000166813 | 611254 | 15q26.1 | kinesin family member 7 | 22587682[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 11389160[PMID]_9689990[PMID]_ [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11389160[PMID]_9689990[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
22 annotations · validated 2021-08-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0030084 | Clinodactyly | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0003037 | Enlarged joints | |
| HP:0002007 | Frontal bossing | |
| HP:0002857 | Genu valgum | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0002419 | Molar tooth sign on MRI | |
| HP:0002654 | Multiple epiphyseal dysplasia | |
| HP:0000767 | Pectus excavatum | |
| HP:0031092 | Spindle-shaped finger | |
| HP:0000207 | Triangular mouth | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002829 | Arthralgia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0012725 | Cutaneous syndactyly | |
| Very rare (<4-1%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23431744PMID]_22587682[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166024
- This record as JSON: /data/d/166024.json