X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Alternate names
PRS; MRXS2; Prieto syndrome; Prieto-Badia-Mulas syndrome
Definition
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
Epidemiology
It has been described in eight males from multiple generations of one family.
Cause
The locus for the causative gene for this syndrome has been localised to the region between p11.22 and p21.1 on the X chromosome.
Signs and symptoms
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
30%-79% of people have these symptoms
- Abnormal fundus morphology
- Abnormal number of incisors(Abnormal number of front teeth)
- Bilateral talipes equinovarus(Club foot on both sides)
- Cerebral atrophy(Degeneration of cerebrum)
- Coxa valga
- Cryptorchidism(Undescended testes)
- Epicanthus(Eye folds)
- Finger clinodactyly
- Generalized hypotonia(Decreased muscle tone)
- High forehead
- Hypertelorism(Wide-set eyes)
- Inguinal hernia
- Intellectual disability(Mental deficiency)
- Low-set ears(Low set ears)
- Nystagmus(Involuntary, rapid, rhythmic eye movements)
- Osteoporosis
- Patellar subluxation(Partial knee cap dislocation)
- Prominent nose(Big nose)
- Ptosis(Drooping upper eyelid)
- Retrognathia(Receding chin)
- Skin dimple
- Strabismus(Cross-eyed)
- Supernumerary ribs(Extra ribs)
Diagnosis
Treatment
NIH genetic and rare disease info
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome is a rare disease.
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