Focal Facial Dermal Dysplasia 3, Setleis Type; Ffdd3

Description

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Focal Facial Dermal Dysplasia 3, Setleis Type; Ffdd3

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring
  • Pectus carinatum
  • Anal atresia
  • Bulbous nose
  • Thick vermilion border
  • Single transverse palmar crease

And another 14 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

Focal Facial Dermal Dysplasia 3, Setleis Type; Ffdd3 Is also known as focal facial dermal dysplasia, type ii, formerly, bitemporal forceps marks syndrome, facial ectodermal dysplasia, setleis syndrome.

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.


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Focal Facial Dermal Dysplasia 3, Setleis Type; Ffdd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

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ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

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1 %
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Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

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ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

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Ambiguous Genitalia Sequencing Panel with CNV Detection.

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Barber-Say syndrome Comprehensive test.

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Ablepharon-macrostomia syndrome Comprehensivetest.

By Connective Tissue Gene Tests (United States).

TWIST2
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Barber-Say syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests (United States).

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Ablepharon-macrostomia syndrome Deletion / Duplication test.

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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