GTR Home > Conditions/Phenotypes > Nablus mask-like facial syndrome

Summary

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). [from OMIM]

Associated genes

  • Location: 8q22.1

Clinical features

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  • Short palpebral fissure
  • Mask-like facies
  • Tapered finger
  • Short neck
  • Lack of skin elasticity
  • Narrow forehead
  • Low anterior hairline
  • Depressed nasal ridge
  • Sparse eyelashes
  • Labial hypoplasia
  • Microcephaly
  • Aplasia/Hypoplasia of the eyebrow
  • Posteriorly rotated ears
  • Finger syndactyly
  • Craniosynostosis
  • Retrognathia
  • Hypoplastic nipples
  • Broad neck
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Telecanthus
  • Prominent glabella
  • Long philtrum
  • Cleft palate
  • Frontal upsweep of hair
  • Cryptorchidism
  • Micropenis
  • Narrow mouth
  • Abnormality of the teeth
  • High palate
  • Thin upper lip vermilion
  • Hypertelorism
  • Smooth philtrum
  • Hypoplasia of the maxilla
  • Low-set ears
  • Wide nasal bridge
  • Abnormality of the eyelashes
  • Sparse eyebrow
  • Blepharophimosis
  • Behavioral abnormality
  • Global developmental delay
  • Limitation of joint mobility
  • Sandal gap
  • Frontal bossing
  • Highly arched eyebrow
  • Short nose
  • Abnormality of the nipple
  • Depressed nasal bridge
  • Abnormality of the nares
  • Postnatal microcephaly
  • Abnormality of dental morphology
  • Sparse hair
  • External ear malformation
  • Joint contracture of the hand
  • Abnormality of the antihelix
  • Sacrococcygeal pilonidal abnormality
  • Camptodactyly of finger
  • Pointed helix
  • Abnormal hair quantity
  • Camptodactyly
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