Some of the skin findings include streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), telangiectases, and streaks of slightly darker or lighter skin. These skin features can cause pain, itching, irritation, or lead to skin infections. With age, most develop wart-like growths, called papillomas, around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Other features include small, ridged fingernails and toenails as well as sparse, brittle or absent scalp hair.
The skeleton is usually affected as well. Many individuals have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, which usually do not cause symptoms.
Eye abnormalities are common and can include microphthalmia and anopthalmia as well as problems with the tear ducts. The retina or the optic nerve can also be incompletely developed, which can result in a gap or split in these structures (coloboma). Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.
People with focal dermal hypoplasia often have distinctive, but subtle facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Some individuals may have a cleft lip and/or palate.About half of those with focal dermal hypoplasia have teeth abnormalities of their teeth, especially of the enamel (the hard, white material that forms the protective outer layer of each tooth). Less commonly, kidney and gastrointestinal abnormalities are present. The kidneys may be fused together, which can lead to kidney infections. The main gastrointestinal abnormality that is seen is an omphalocele.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of dental enamel||90%|
|Abnormality of dental morphology||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the nail||90%|
|Camptodactyly of finger||90%|
|Lower limb asymmetry||90%|
|Low-set, posteriorly rotated ears||90%|
|Reduced number of teeth||90%|
|Rough bone trabeculation||90%|
|Telangiectasia of the skin||90%|
|Abnormal localization of kidney||50%|
|Abnormality of pelvic girdle bone morphology||50%|
|Abnormality of the clavicle||50%|
|Abnormality of the ribs||50%|
|Aplasia/Hypoplasia of the iris||50%|
|Multicystic kidney dysplasia||50%|
|Opacification of the corneal stroma||50%|
|Abnormality of adipose tissue||7.5%|
|Abnormality of the mediastinum||7.5%|
|Abnormality of the pulmonary vasculature||7.5%|
|Acute hepatic failure||7.5%|
|Aplasia/Hypoplasia of the lungs||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Narrow nasal bridge||7.5%|
|Neoplasm of the skeletal system||7.5%|
|Patent ductus arteriosus||7.5%|
|Ventricular septal defect||7.5%|
|Abnormality of the larynx||-|
|Abnormality of the pinna||-|
|Agenesis of corpus callosum||-|
|Anteriorly placed anus||-|
|Broad nasal tip||-|
|Cleft ala nasi||-|
|Cleft upper lip||-|
|Congenital hip dislocation||-|
|Delayed eruption of teeth||-|
|Hypoplasia of dental enamel||-|
|Mixed hearing impairment||-|
|Postaxial hand polydactyly||-|
|Reduced visual acuity||-|
|Short phalanx of finger||-|
|Spina bifida occulta||-|
|Stenosis of the external auditory canal||-|
|X-linked dominant inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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How is this condition inherited? Does X-inactivation affect the inheritance? See answer