ORPHA:2511
Microbrachycephaly-ptosis-cleft lip syndrome
Synonyms: Richieri Costa-Guion Almeida-Ramos syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microbrachycephaly-ptosis-cleft lip syndrome | Richieri Costa-Guion Almeida-Ramos syndrome |
| fr | Syndrome de microbrachycéphalie-ptosis-fente labiale | Syndrome de Richieri Costa-Guion Almeida-Ramos |
| de | Mikrobrachyzephalie-Ptosis-Lippenspalte-Syndrom | Richieri-Costa-Guion-Almeida Ramos-Syndrom |
| es | Síndrome de microbraquicefalia-ptosis-fisura labial | Síndrome de Richieri Costa-Guion Almeida-Ramos |
| it | Microbrachicefalia - ptosi - schisi labiale | Sindrome di Richieri Costa-Guion Almeida-Ramos |
| nl | Microbrachycefalie - ptose - gespleten lip-syndroom | Syndroom van Richieri Costa-Guion Almeida-Ramos |
| pt | Síndrome de microbraquicefalia-ptose-fenda labial | Síndrome Richieri-Costa-Guion-Almeida |
| pl | Mikrobrachycefalia - ptoza - rozszczep wargi | Zespół Richieri Costa, Guion Almeida i Ramosa |
| cs | Syndrom zahrnující mikrobrachycefalii, ptózu a rozštěp rtu | Richieri Costův-Guion Almeidaové-Ramosův syndrom · Richieri Costa-Guion Almeida-Ramosův syndrom |
| uk | Синдром мікробрахіцефалії-птозу-розщілини губи | Синдром Річчієрі Коста-Гійона Альмейда-Рамоса |
| zh | 短小头畸形-上睑下垂-唇裂综合征 | Richieri Costa-Guion Almeida-Ramos 综合征 |
| tr | Mikrobrakisefali-pitozis-yarık dudak sendromu | Richieri Costa-Guion Almeida-Ramos sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268850 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010007 | E | validated | |
| UMLS | C4518461 | E | validated | |
| GARD | 3596 | 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: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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1605250[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1605250[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.
6
HPO phenotypes
36 annotations · validated 2017-08-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0010668 | Abnormal zygomatic bone morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0000598 | Abnormality of the ear | |
| HP:0003172 | Abnormality of the pubic bone | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0005469 | Flat occiput | |
| HP:0001263 | Global developmental delay | |
| HP:0000364 | Hearing abnormality | |
| HP:0000601 | Hypotelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000239 | Large fontanelles | |
| HP:0008818 | Large iliac wings | |
| HP:0000276 | Long face | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0000275 | Narrow face | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0003510 | Severe short stature | |
| HP:0009721 | Shagreen patch | |
| HP:0004279 | Short palm | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0100333 | Unilateral cleft lip | |
| Frequent (79-30%) | ||
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0003307 | Hyperlordosis | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2511
- This record as JSON: /data/d/2511.json