Macrosomia-microphthalmia-cleft palate syndrome
historical
Synonyms: Teebi-Al Saleh-Hassoon syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrosomia-microphthalmia-cleft palate syndrome | Teebi-Al Saleh-Hassoon syndrome |
| fr | Syndrome de macrosomie-microphtalmie-fente palatine | Syndrome de Teebi-Al Saleh-Hassoon |
| de | Makrosomie - Mikrophthalmie - Gaumenspalte | Teebi-al Saleh-Hassoon-Syndrom |
| es | Síndrome de macrosomía-microftalmia-paladar hendido | Síndrome de Teebi-Al Saleh-Hassoon |
| it | Sindrome da macrosomia, microftalmia e palatoschisi | Sindrome di Teebi-Al Saleh-Hassoon |
| nl | Macrosomie - microftalmie - gespleten verhemelte-syndroom | Syndroom van Teebi-Al Saleh-Hassoon |
| pt | Síndrome de macrossomia-microftalmia-fenda palatina | |
| pl | Makrosomia - małoocze - rozszczep podniebienia | Zespół Teebi, Al Saleh i Hassoon |
| cs | Syndrom zahrnující makrosomii, mikroftalmii a rozštěp patra | Teebiho-Al Salehův-Hassoonův syndrom · Teebi-Al Saleh-Hassoonův syndrom |
| uk | Синдром макросомії-мікрофтальмії-розщілини піднебіння | Синдром Тібі-аль-Салех-Хассун |
| zh | 巨大儿-小眼-腭裂综合征 | Teebi-Al Saleh-Hassoon综合征 |
| tr | Makrozomi-mikroftalmi-yarık damak sendromu | Teebi-Al Saleh-Hassoon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248110 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0009547 | E | validated | |
| MeSH | C537830 | E | validated | |
| UMLS | C4721892 | E | validated | |
| GARD | 177 | 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 (4):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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 | 5 cases | Worldwide | Case(s) | Validated | 2791331[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2791331[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0000337 | Broad forehead | |
| HP:0002240 | Hepatomegaly | |
| HP:0001520 | Large for gestational age | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0002205 | Recurrent respiratory infections | |
| Frequent (79-30%) | ||
| HP:0002683 | Abnormality of the calvaria | |
| HP:0007957 | Corneal opacity | |
| HP:0009099 | Median cleft palate | |
| HP:0002093 | Respiratory insufficiency | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2432
- This record as JSON: /data/d/2432.json