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GTR Home > Tests > Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292, Autosomal dominant; EEC3 (EEC syndrome) (TP63 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292, Autosomal dominant; EEC3 (EEC syndrome) (TP63 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

  • GTR Test IDHelp: GTR000576917.1
  • Last updated: 2022-05-14
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Offered by Intergen

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Blepharitis
  • Blepharophimosis
  • Choanal atresia
  • Cleft upper lip
  • Cryptorchidism
  • Dacryocystitis
  • Carious teeth
  • Ectodermal dysplasia
  • Hydronephrosis
  • Ureterocele
  • Urethral stenosis
  • Vesicoureteral reflux
  • Xerostomia
  • Photophobia
  • Nail pits
  • Microtia
  • Diverticulum of bladder
  • Nail dystrophy
  • Lacrimal duct stenosis
  • Hypoplasia of the maxilla
  • Microdontia
  • Anal stenosis
  • Ectrodactyly
  • Toe syndactyly
  • Hypogonadotropic hypogonadism
  • Split foot
  • Hypoplastic nipples
  • Hydroureter
  • Renal agenesis
  • Blue irides
  • Central diabetes insipidus
  • Hyperkeratosis
  • Hearing impairment
  • Sparse eyebrow
  • Anteriorly placed anus
  • Sparse eyelashes
  • Fair hair
  • Generalized hypopigmentation
  • Facial hirsutism
  • Megacystis
  • Transverse vaginal septum
  • Sparse scalp hair
  • Malar flattening
  • Duplicated collecting system
  • Absence of Stensen duct
  • Sparse pubic hair
  • Sparse axillary hair
  • Depressed nasal tip
  • Selective tooth agenesis
  • Hypoplastic sacrum
  • Split hand
  • Cleft palate
  • Renal dysplasia
  • Intellectual disability
  • Abnormal nasopharynx morphology
  • Micropenis
  • Decreased response to growth hormone stimulation test
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Conditions tested

Target population

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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292, Autosomal dominant; EEC3 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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