Noonan-like syndrome with loose anagen hair
Definition[edit | edit source]
Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing).
Cause[edit | edit source]
The condition is caused by mutations in the SHOC2 gene.
Inheritance[edit | edit source]
It follows an autosomal dominant pattern of inheritance.
Signs and symptoms[edit | edit source]
This condition is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Delayed skeletal maturation(Delayed bone maturation)
- Low posterior hairline(Low hairline at back of neck)
- Low-set, posteriorly rotated ears
- Short nose(Decreased length of nose)
- Short stature(Decreased body height)
- Sparse scalp hair(Reduced/lack of hair on scalp)
- Webbed neck(Neck webbing)
30%-79% of people have these symptoms
- Anteverted nares(Nasal tip, upturned)
- Aplasia/Hypoplasia of the eyebrow(Absence of eyebrow)
- Deep philtrum
- Epicanthus(Eye folds)
- Hydrocephalus(Too much cerebrospinal fluid in the brain)
- Hypertrophic cardiomyopathy(Enlarged and thickened heart muscle)
- Macrotia(Large ears)
- Pectus excavatum(Funnel chest)
- Pulmonic stenosis(Narrowing of pulmonic valve)
5%-29% of people have these symptoms
- Abnormal fingernail morphology(Abnormal fingernails)
- Abnormal palate morphology(Abnormality of the palate)
- Abnormality of the elbow(Abnormality of the elbows)
- Abnormality of the intervertebral disk
- [[Brachydactyly](Short fingers or toes)
- Carious teeth(Dental cavities)
- Cryptorchidism(Undescended testes)
- Deep palmar crease(Deep palm line)
- Eczema
- Feeding difficulties(Feeding problems)
- Generalized hypotonia(Decreased muscle tone)
- Hearing impairment(Deafness)
- Hypertelorism(Wide-set eyes)
- Hypoplasia of the corpus callosum(Underdevelopment of part of brain called corpus callosum)
- Hypoplastic toenails(Underdeveloped toenails)
- Ichthyosis
- Intellectual disability(Mental deficiency)
- Joint laxity(Joint instability)
- Long eyelashes(Increased length of eyelashes)
- Nasal speech(Nasal voice)
- Thick lower lip vermilion(Increased volume of lower lip)
- Thin vermilion border(Decreased volume of lip)
1%-4% of people have these symptoms
- Keratosis pilaris(Chicken skin)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
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