1. Mendelian
  2. Rare Diseases
  3. NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS

8q22.1 Microdeletion Syndrome

Table of contents:

Description

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.

Clinical Features

Top most frequent phenotypes and symptoms related to 8q22.1 Microdeletion Syndrome

  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture
  • High palate
  • Delayed speech and language development
  • Depressed nasal bridge

And another 61 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

8q22.1 Microdeletion Syndrome Is also known as nablus mask-like facial syndrome, chromosome 8q22.1 deletion syndrome, monosomy 8q22.1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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