Absence Of Fingerprints-congenital Milia Syndrome

Description

Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

Clinical Features

Phenotypes and symptoms related to Absence Of Fingerprints-congenital Milia Syndrome

  • Camptodactyly of finger
  • Skin rash
  • Abnormal blistering of the skin
  • Thin skin
  • Thickened skin
  • Hypohidrosis
  • Abnormal dermatoglyphics
  • Milia
  • Amniotic constriction ring

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

Absence Of Fingerprints-congenital Milia Syndrome Is also known as baird syndrome, absence of dermatoglyphics-congenital milia syndrome.

Researches and researchers

Doctors, researchs, and experts related to Absence Of Fingerprints-congenital Milia Syndrome extracted from public data.

Absence Of Fingerprints-congenital Milia Syndrome Experts map



Current Researchs and researchers

  • LONDON — Ms Sue M MAILLARD

    Investigator of research project - Contact person of registry

    • Institution/s:
      — UCL Institute of Child Health, University College London
    • Research area/topic::

      The physiotherapy management of Coxa-Vara-Camptodactyly-Arthropathy-Pericarditis Syndrome (CCAP)


  • LONDON — Dr Clarissa PILKINGTON

    Investigator of research project - Contact person of registry

    • Institution/s:
      — UCL Institute of Child Health, University College London
      — Philip Ullman Wing, UCL Institute of Child Health, University College London
    • Research area/topic::

      The physiotherapy management of Coxa-Vara-Camptodactyly-Arthropathy-Pericarditis Syndrome (CCAP)



Mendelian

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Absence Of Fingerprints-congenital Milia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SMARCAD1.

By Fulgent Genetics Fulgent Genetics (United States).

SMARCAD1
Specificity
100 %
Genes
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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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