ORPHA:2117
Hartsfield syndrome
Synonyms: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hartsfield syndrome | Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome |
| fr | Syndrome de Hartsfield | Syndrome d'holoprosencéphalie-ectrodactylie-fente labiopalatine |
| de | Hartsfield-Syndrom | Holoprosenzephalie-Ektrodaktylie-Lippen-Kiefer-Gaumenspalte-Syndrom |
| es | Síndrome de Hartsfield | Síndrome de holoprosencefalia-ectrodactilia-fisura labiopalatina |
| it | Sindrome di Hartsfield | Oloprosencefalia - ectrodattilia - schisi labiopalatina |
| nl | Syndroom van Hartsfield | Holoprosencefalie - ectrodactylie - gespleten lip/verhemelte-syndroom |
| pt | Síndrome Hartsfield | Síndrome de holoprosencefalia-ectrodactilia-fenda lábio-palatina |
| pl | Zespół Hartsfielda, Bixlera i Demyera | Holoprozencefalia - ektrodaktylia - rozszczep wargi i podniebienia |
| cs | Hartsfieldův-Bixlerův-Demyerův syndrom | Syndrom zahrnující holoprosencefalii, ektrodaktylii a rozštěp rtu a patra |
| uk | Синдром Хартсфілда | Синдром голопрозенцефалії-екстродактилії-розщеплення губи/піднебіння |
| zh | Hartsfield综合征 | 前脑无脑畸形-先天性缺指畸形-唇腭裂综合征 |
| tr | Hartsfield sendromu | Holoprosensefali-ektrodaktili-yarık dudak / damak sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615465 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014196 | E | validated | |
| MONDO | 14196 | E | validated | |
| MeSH | C564484 | E | validated | |
| UMLS | C1845146 | E | validated | |
| GARD | 2725 | 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 (6):
- ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
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:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 23812909[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 23812909[PMID]_EXPERT | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23812909[PMID]_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.
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HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000175 | Cleft palate | |
| HP:0001363 | Craniosynostosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002084 | Encephalocele | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0006870 | Lobar holoprosencephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0001171 | Split hand | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2117
- This record as JSON: /data/d/2117.json