Presentation
ORPHA:447974 Classification level: Disorder Synonym(s): - Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy ICD-10: Q76.1 OMIM: 616549 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]
The 14-year-old boy, born of consanguineous parents, presented at 16 months of age with motor delay and short stature, at which time microcephaly was also noted. He was floppy in infancy, sat at age 1 year, and walked at 2 years. [omim.org]
Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. [ncbi.nlm.nih.gov]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
PMID: 27301052 Prognosis Akhtar MS, Rehman RU, Ali I J Ayub Med Coll Abbottabad 2022 Jul-Sep;34(3):573-577. doi: 10.55519/JAMC-03-9848. [ncbi.nlm.nih.gov]
Etiology
[…] system Flexion contracture Generalized hypotonia Klippel-Feil syndrome Microcephaly Micrognathia Myopathy Nemaline bodies Thoracolumbar scoliosis Abnormality of the nervous system Motor delay Ear malformation Low-set ears Growth abnormality Short stature Etiology [ncbi.nlm.nih.gov]
Prevention
It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]