Hypotonia-speech impairment-severe cognitive delay syndrome
Synonyms: Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotonia-speech impairment-severe cognitive delay syndrome | Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome |
| fr | Syndrome d'hypotonie-troubles du langage sévères-retard cognitif sévère | |
| de | Hypotonie-Sprachstörung-schwere kognitive Entwicklungsverzögerung-Syndrom | IHPRF-Syndrom · Infantile Hypotonie mit psychomotorischer Entwicklungsverzögerung und charakteristischem Gesicht |
| es | Síndrome de hipotonía-trastorno del habla-retraso cognitivo grave | Síndrome IHPRF · Síndrome de hipotonía infantil-retraso psicomotor-facies característica |
| it | Ipotonia-deficit del linguaggio-ritardo cognitivo grave | |
| nl | Hypotonie - spraakstoornis - ernstige cognitieve achterstand-syndroom | IHPRF-syndroom · Infantiele hypotonie - psychomotorische achterstand - karakteristiek gelaat-syndroom |
| pt | Síndrome de hipotonia-perturbação da linguagem-perturbação do desenvolvimento intelectual grave | |
| pl | Zespół hipotonii, upośledzenia mowy i ciężkiego opóźnienia rozwoju poznawczego | Zespół IHPRF · Zespół hipotonii niemowlęcej, opóźnienia psychruchowego i charakterystycznego wyglądu twarzy |
| cs | Syndrom zahrnující hypotonii, poruchu řeči a těžké kognitivní opoždění | = en |
| uk | Синдром гіпотонії-порушення мовлення-тяжкої когнітивної затримки | Синдром IHPRF · Синдром дитячої гіпотонії - затримка психомоторного розвитку - фаціальний синдром |
| zh | 低张力-言语障碍-严重认知延迟综合征 | IHPRF综合征 |
| tr | Hipotoni-konuşma bozukluğu-ağır bilişsel gecikme sendromu | İnfantil hipotoni-psikomotor gerilik-karakteristik yüz sendromu · IHPRF sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615419 | BTNT | validated | |
| OMIM | 616801 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014176 | E | validated | |
| UMLS | C4706556 | 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 (3):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| UNC80 | ORPHA:700333Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26582 | ENSG00000144406 | 612636 | 2q34 | unc-80 subunit of NALCN channel complex | 26708751[PMID]_26708753[PMID]_26545877[PMID] |
| NALCN | ORPHA:700336Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:19082 | ENSG00000102452 | 611549 | 13q32.3-q33.1 | sodium leak channel, non-selective | 23749988[PMID]_24075186[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 23749988[PMID]_24075186[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
55 annotations · validated 2019-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000565 | Esotropia | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001270 | Motor delay | |
| HP:0000486 | Strabismus | |
| HP:0009884 | Tapered distal phalanges of finger | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000463 | Anteverted nares | |
| HP:0001166 | Arachnodactyly | |
| HP:0004326 | Cachexia | |
| HP:0002019 | Constipation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100660 | Dyskinesia | |
| HP:0002353 | EEG abnormality | |
| HP:0009931 | Enlarged naris | |
| HP:0011968 | Feeding difficulties | |
| HP:0002007 | Frontal bossing | |
| HP:0100963 | Hyperesthesia | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001357 | Plagiocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001525 | Severe failure to thrive | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000319 | Smooth philtrum | |
| HP:0001762 | Talipes equinovarus | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000325 | Triangular face | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0100024 | Conspicuously happy disposition | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0003273 | Hip contracture | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0006380 | Knee flexion contracture | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0000639 | Nystagmus | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000470 | Short neck | |
| HP:0002360 | Sleep abnormality | |
| HP:0002510 | Spastic tetraplegia | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 27513830[PMID]_26545877[PMID]_26708753[PMID]_26708751[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/371364
- This record as JSON: /data/d/371364.json