Presentation
Respiratoric
- Aspiration
Treatment - Malpuech facial clefting syndrome o Neonatal support is largely nutritional –Patients with velopharyngeal insufficiency are at risk for aspiration –Breastfeeding may or may not be possible depending on the location and size of the defect – [checkorphan.org]
Musculoskeletal
- Lordosis
[…] coccyx/caudal appendage Mental retardation Postnatal growth deficiency Telecanthus Bifid tip of the nose Dysplastic/low set ears Down-turned corners of the mouth Cleft lip/palate Accessory nipple Cryptorchid testes Short/clinodactilous fifth finger Lordosis [documents.tips]
- Hip Dislocation
dislocation Fibular aplasia ectrodactyly Deafness, dystonia, and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and severe dermatitis [checkrare.com]
Ears
- Hearing Impairment
At age three years, mental retardation, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. [en.wikipedia.org]
Psychiatrical
- Psychiatric Manifestation
Long-term follow-up revealed psychiatric manifestations starting at young age. [ncbi.nlm.nih.gov]
Psychiatric manifestations that have been reported with the syndrome include psychotic behavior, obsessive–compulsive disorder, loss of inhibition, hyperactivity, aggression, fear of physical contact, and compulsive actions like echolalia (repeating the [en.wikipedia.org]
- Fear
At age 14, he exhibited a fear of physical contact; at age 15, he experienced a severe psychotic episode, characterized by agitation and a loss of sociosexual inhibition. [en.wikipedia.org]
- Compulsive Disorder
At age three years, mental retardation, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. [en.wikipedia.org]
Neurologic
- Echolalia
He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia. The incidence of Malpuech syndrome has not been determined. [en.wikipedia.org]
He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia. Epidemiology and history The incidence of Malpuech syndrome has not been determined. [wiki30.com]