Hallermann-Streiff syndrome
Synonyms: François dyscephalic syndrome · Oculomandibulofacial syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hallermann-Streiff syndrome | François dyscephalic syndrome · Oculomandibulofacial syndrome |
| fr | Syndrome de Hallermann-Streiff | Syndrome dyscéphalique de François · Syndrome oculomandibulofacial |
| de | Hallermann-Streiff-Syndrom | François-Dyskephaliesyndrom · Okulo-mandibulo-faziales Syndrom |
| es | Síndrome de Hallermann-Streiff | Síndrome discefálico de François · Síndrome oculomandibulofacial |
| it | Sindrome di Hallermann-Streiff | Sindrome discefalica di François · Sindrome oculo-mandibolo-facciale |
| nl | Syndroom van Hallermann-Streiff | Dyscefaliesyndroom van François · Oculomandibulofaciaal syndroom |
| pt | Síndrome Hallermann-Streiff | Síndrome discefálico de François · Síndrome oculomandibulofacial |
| pl | Zespół Hallermanna i Streiffa | Zespół dyscefalii Françoisa |
| cs | Hallermannův-Streiffův syndrom | Okulomandibulofaciální syndrom · Françoisův dyscefalický syndrom · Hallermann-Streiffův syndrom |
| uk | Синдром Галлермана-Штрайфа | Дисцефальний синдром Франсуа · Окуломандибулофаціальний синдром |
| zh | Hallermann-Streiff综合征 | Hallermann-Streiff综合征 |
| tr | Hallermann-Streiff sendromu | François disefalik sendromu · Okülomandibulofasiyal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234100 | E | validated | |
| ICD-10 | Q87.0 | NTBT | index | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0009318 | E | validated | |
| MeSH | D006210 | E | validated | |
| UMLS | C0018522 | E | validated | |
| GARD | 288 | 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 (8):
- ORPHA:98650Craniofacial anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2109Severe Hallermann-Streiff syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHD6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19057 | ENSG00000124177 | 616114 | 20q12 | chromodomain helicase DNA binding protein 6 | 34021162[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 10388418[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_10388418[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Japan | Value and class | Validated | 2092586[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
50 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001596 | Alopecia | |
| HP:0000248 | Brachycephaly | |
| HP:0000444 | Convex nasal ridge | |
| HP:0004334 | Dermal atrophy | |
| HP:0000519 | Developmental cataract | |
| HP:0002007 | Frontal bossing | |
| HP:0000568 | Microphthalmia | |
| HP:0003508 | Proportionate short stature | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000896 | Rib exostoses | |
| HP:0000773 | Short ribs | |
| HP:0002231 | Sparse body hair | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0010719 | Abnormality of hair texture | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0000162 | Glossoptosis | |
| HP:0002705 | High, narrow palate | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000695 | Natal tooth | |
| HP:0002757 | Recurrent fractures | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0011069 | Supernumerary tooth | |
| HP:0000506 | Telecanthus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0003363 | Abdominal situs inversus | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000453 | Choanal atresia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001635 | Congestive heart failure | |
| HP:0000028 | Cryptorchidism | |
| HP:0000501 | Glaucoma | |
| HP:0000821 | Hypothyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0002779 | Tracheomalacia | |
| HP:0000554 | Uveitis | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2108
- This record as JSON: /data/d/2108.json