Nablus mask-like facial syndrome

Preferred Label : Nablus mask-like facial syndrome;

Symbol : NMLFS;

CISMeF acronym : NMLFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 8q22.1 deletion syndrome;

Description : Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by deletion of 3.2Mb deletion on 8q22.1;

Prefixed ID : #608156;

Détails

Origin ID

608156;

UMLS CUI

C1842464;

CISMeF manual mappings
- 8q22.1 microdeletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 8q22.1 deletion [ICD-11 More detail]
- 8q22.1 microdeletion syndrome [ORDO Disease]
- Nablus mask-like facial syndrome [MeSH concept]
- nablus mask-like facial syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bitemporal narrowing [HPO term]
- Blepharophimosis [HPO term]
- Broad neck [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Flat, broad nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Frontal upsweep of hair [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic nipples [HPO term]
- Isolated cases [HPO term]
- Joint contracture of the hand [HPO term]
- Labial hypoplasia [HPO term]
- Long philtrum [HPO term]
- Long, smooth philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Mask-like facies [HPO term]
- Microcephaly, acquired [HPO term]
- Micropenis [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent glabella [HPO term]
- Retrognathia [HPO term]
- Secondary microcephaly [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Smooth philtrum [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sporadic [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 8q22.1 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 8q22.1 deletion [ICD-11 More detail]
- 8q22.1 microdeletion syndrome [ORDO Disease]
- 8q22.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- Nablus mask-like facial syndrome [MeSH concept]
- nablus mask-like facial syndrome [MeSH Supplementary Concept]

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