ORPHA:2701
Noonan syndrome-like disorder with loose anagen hair
Synonyms: Mazzanti syndrome · NS/LAH
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Noonan syndrome-like disorder with loose anagen hair | Mazzanti syndrome · NS/LAH |
| fr | Syndrome Noonan-like avec cheveux anagènes caducs | NS/LAH · Syndrome de Mazzanti |
| de | Noonan-ähnliches Syndrom mit losem Anagenhaar | NS/LAH · Tosti-Syndrom |
| es | Trastorno de síndrome similar a Noonan con cabello anágeno suelto | NS/LAH · Síndrome de Tosti · Trastorno de síndrome de Noonan-like con cabello anágeno suelto |
| it | Sindrome Noonan-simile con capelli caduchi in fase anagen | NS/LAH · Sindrome di Tosti |
| nl | Syndroom van Noonan-achtige aandoening met loszittend anageen haar | NS/LAH · Syndroom van Mazzanti |
| pt | Síndrome Noonan-like com cabelo em fase anágena solto | Síndrome Noonan-like |
| pl | Zaburzenie podobne do zespołu Noonan z luźnymi włosami anagenowymi | NS/LAH · Zespół Tosti |
| cs | Porucha podobná Noonanové syndromu, s řídkými vlasy ve fázi anagenu | NS/LAH · Tostiové syndrom |
| uk | Захворювання, подібне до синдрому Нунана, з випаданням анагенного волосся | Синдром Маццанті · NS/LAH |
| zh | Noonan综合征样异常伴生长期头发松动 | Tosti综合征 |
| tr | Anajen saç güçsüzlüğü ile seyreden Noonan sendromu benzeri bozukluk | NS / LAH · Tosti sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607721 | BTNT | validated | |
| OMIM | 617506 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011899 | E | validated | |
| UMLS | C1843181 | E | validated | |
| GARD | 10719 | 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 (7):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
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:98733Noonan syndrome and Noonan-related syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:98576Syndromic outer canthal malposition
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPP1CB | Disease-causing germline mutation(s) in | Assessed | HGNC:9282 | ENSG00000213639 | 600590 | 2p23.2 | protein phosphatase 1 catalytic subunit beta | 27264673[PMID]_27868344[PMID]_28211982[PMID] |
| SHOC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15454 | ENSG00000108061 | 602775 | 10q25.2 | SHOC2 leucine rich repeat scaffold protein | 19684605[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002162 | Low posterior hairline | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0002209 | Sparse scalp hair | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0002002 | Deep philtrum | |
| HP:0000286 | Epicanthus | |
| HP:0000238 | Hydrocephalus | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000400 | Macrotia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001642 | Pulmonic stenosis | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0001156 | Brachydactyly | |
| HP:0000670 | Carious teeth | |
| HP:0000028 | Cryptorchidism | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001249 | Intellectual disability | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2701
- This record as JSON: /data/d/2701.json