Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic, Therapeutic management
GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder.
- Alopecia
- Epidermoid cyst
- Esotropia
- Glaucoma
- Hepatomegaly
- Umbilical hernia
- Hypertelorism
- Keratoconus
- Micrognathia
- Nystagmus
- Optic atrophy
- Scoliosis
- Seizure
- Strabismus
- Eruption failure
- Photophobia
- EEG abnormality
- Frontal bossing
- Breast hypoplasia
- Delayed cranial suture closure
- Megalocornea
- Facial palsy
- Shallow anterior chamber
- Hypoplastic nipples
- Growth delay
- Delayed skeletal maturation
- Redundant skin
- Epicanthus
- Sparse eyebrow
- Nail dysplasia
- Depressed nasal bridge
- High, narrow palate
- Thick lower lip vermilion
- Anteverted nares
- Sparse eyelashes
- Joint hypermobility
- Broad forehead
- Short nose
- Motor delay
- Protruding ear
- Prominent scalp veins
- Long philtrum
- Bell-shaped thorax
- Wide anterior fontanel
- Tubulointerstitial fibrosis
- Plagiocephaly
- Ventriculomegaly
- Intellectual disability
- Delayed closure of the anterior fontanelle
- Sparse hair
- Retinal arteriolar tortuosity
Show allThe Invitae Ectodermal Dysplasia and Related Disorders Panel analyzes genes that are associated with disorders affecting ectodermal tissues including skin, hair, teeth, nails, and sweat glands. These genes were selected based on the available evidence to date to provide a broad analysis for inherited ectodermal dysplasia. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
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