ORPHA:1519
SPECC1L-related hypertelorism syndrome
Synonyms: Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SPECC1L-related hypertelorism syndrome | Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome |
| fr | Syndrome d'hypertélorisme associé à SPECC1L | Dysplasie brachycéphalofrontonasale · Syndrome d'hypertélorisme de Teebi |
| de | SPECC1L-assoziiertes Hypertelorismus-Syndrom | Dysplasie, brachy-zephalo-fronto-nasale · Dysplasie, kranio-fronto-nasale, Typ Teebi · Teebi-Hypertelorismus-Syndrom · Teebi-Syndrom |
| es | Síndrome de hipertelorismo asociado a SPECC1L | Displasia braquicefalofrontonasal · Síndrome de hipertelorismo de Teebi |
| it | Sindrome da ipertelorismo correlata a SPECC1L | Displasia brachicefalo-fronto-nasale · Sindrome da ipertelorismo di Teebi |
| nl | SPECC1L-gerelateerd hypertelorisme-syndroom | Hypertelorisme-syndroom van Teebi · Brachycefalofrontonasale dysplasie |
| pt | Síndrome de hipertelorismo SPECC1L-relacionado | Displasia braqui-cefalo-fronto-nasal · Síndrome de hipertelorismo Teebi |
| pl | Zespół hiperteloryzmu zwiazany z SPECC1L | Dysplazja czaszkowo-czołowo-nosowa, typu Teebi · Dysplazja skrzelowo-czaszkowo-czołowo-nosowa · Zespół hiperteloryzmu Teebi · Zespół Teebi |
| cs | Syndrom hypertelorismu spojený se SPECC1L | Brachycefalofrontonazální dysplázie · Kraniofrontonazální dysplázie, Teebiho typ · Teebiho syndrom s hypertelorismem · Teebiho syndrom |
| uk | Синдром гіпертелоризму, повязаний з SPECC1L | Брахіцефалофронтоназальна дисплазія · Синдром гіпертелоризму Тібі |
| zh | 眼距过宽症，Teebi型 | 颅额鼻发育不全，Teebi型 |
| tr | Hipertelorizm, Teebi türü | Teebi sendromu · Teebi hipertelorizm sendromu · Brakisefalofrontonazal displazi · Kraniyofrontonazal displazi, Teebi tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145420 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0800025 | E | validated | |
| UMLS | C0796179 | E | validated | |
| GARD | 957 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPECC1L | Disease-causing germline mutation(s) in | Assessed | HGNC:29022 | ENSG00000100014 | 614140 | 22q11.23 | sperm antigen with calponin homology and coiled-coil domains 1 like | 26111080[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 26111080[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26111080[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.
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HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000574 | Thick eyebrow | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0006101 | Finger syndactyly | |
| HP:0000369 | Low-set ears | |
| HP:0004467 | Preauricular pit | |
| HP:0011220 | Prominent forehead | |
| HP:0000508 | Ptosis | |
| HP:0000311 | Round face | |
| HP:0000049 | Shawl scrotum | |
| HP:0003196 | Short nose | |
| HP:0001831 | Short toe | |
| HP:0001537 | Umbilical hernia | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000349 | Widow's peak | |
| Occasional (29-5%) | ||
| HP:0006288 | Advanced eruption of teeth | |
| HP:0011675 | Arrhythmia | |
| HP:0001631 | Atrial septal defect | |
| HP:0000248 | Brachycephaly | |
| HP:0010751 | Chin dimple | |
| HP:0000086 | Ectopic kidney | |
| HP:0010458 | Female pseudohermaphroditism | |
| HP:0001539 | Omphalocele | |
| HP:0000202 | Orofacial cleft | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000520 | Proptosis | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1519
- This record as JSON: /data/d/1519.json