ORPHA:562528
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Synonyms: CLIFAHDD syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital limbs-face contractures-hypotonia-developmental delay syndrome | CLIFAHDD syndrome |
| fr | Syndrome de contractures congénitales des membres et de la face-hypotonie-retard de développement | Syndrome CLIFAHDD |
| de | Kongenitale Extremitäten- und Gesichtskontrakturen-Hypotonie-Entwicklungsverzögerung-Syndrom | CLIFAHDD-Syndrom |
| es | Síndrome de contracturas congénitas faciales y de las extremidades-hipotonía-retraso del desarrollo | Síndrome CLIFAHDD |
| it | Sindrome contratture congenite degli arti e del viso-ipotonia-ritardo dello sviluppo | Sindrome CLIFAHDD |
| nl | Congenitale contracturen van ledematen en gelaat - hypotonie - ontwikkelingsachterstand-syndroom | CLIFAHDD syndroom |
| pt | Síndrome de contraturas congénitas dos membros e da face-hipotonia-perturbação do desenvolvimento | Síndrome CLIFAHDD |
| pl | Zespół wrodzonych przykurczy kończyn i twarzy, hipotonii i opóźnionego rozwoju | Zespół CLIFAHDD |
| cs | Syndrom zahrnující vrozené kontraktury končetin a obličeje, hypotonii a opožděný vývoj | = en |
| uk | Синдром вроджених контрактур кінцівок-контрактур обличчя-гіпотонії-затримки розвитку | Синдром CLIFAHDD |
| zh | 先天性四肢-面部挛缩-肌张力低下-发育迟缓综合征 | = en |
| tr | Doğumsal ekstremiteler-yüz kontraktürleri-hipotoni-gelişme geriliği sendromu | CLIFAHDD sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616266 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014556 | E | validated | |
| UMLS | C4225398 | 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 (4):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - 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:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NALCN | Disease-causing germline mutation(s) in | Assessed | HGNC:19082 | ENSG00000102452 | 611549 | 13q32.3-q33.1 | sodium leak channel, non-selective | 31410997[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 25683120[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25683120[PMID]_28133733[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
50 annotations · validated 2022-12-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0012385 | Camptodactyly | |
| HP:0012758 | Neurodevelopmental delay | |
| Frequent (79-30%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0001181 | Adducted thumb | |
| HP:0011824 | Chin with H-shaped crease | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0009931 | Enlarged naris | |
| HP:0001371 | Flexion contracture | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0100790 | Hernia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0000205 | Pursed lips | |
| HP:0002000 | Short columella | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0001848 | Calcaneovalgus deformity | |
| HP:0002019 | Constipation | |
| HP:0002307 | Drooling | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0011968 | Feeding difficulties | |
| HP:0000218 | High palate | |
| HP:0001276 | Hypertonia | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| Very rare (<4-1%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0000545 | Myopia | |
| HP:0000417 | Slender nose | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 35911839[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/562528
- This record as JSON: /data/d/562528.json