People with van Buchem disease are typically of average height and do not have syndactyly or nail abnormalities. Affected individuals tend to have less severe cranial nerve compression, resulting in milder neurological features. [ghr.nlm.nih.gov]

failure Chrna4 Developmental Disabilities Chrna4 Diabetes Mellitus, Experimental Ache Distal Hereditary Motor Neuropathy, Type VIIA Slc5a7 Drug-Related Side Effects and Adverse Reactions Ache dyschromatosis symmetrica hereditaria Chrnb2 dystonia Chrna4 [rgd.mcw.edu]

Fetalis Chrna1 hypertrophic cardiomyopathy Lrp4, Rapsn Hypothermia Chrnb2 Idiopathic Basal Ganglia Calcification 1 Chrna6, Chrnb3 Inflammation Chrna4, Chrnb2 juvenile myoclonic epilepsy Chrna1, Chrna7 learning disability Ache leptospirosis Ache Lewy [rgd.mcw.edu]

Most common symptoms of HYPEROSTOSIS CORTICALIS GENERALISATA Autosomal recessive inheritance Hearing impairment Sensorineural hearing impairment Optic atrophy Mandibular prognathia More info about HYPEROSTOSIS CORTICALIS GENERALISATA SOURCES: OMIM UMLS [mendelian.co]

impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased intracranial pressure Rise in pressure inside skull 0002516 Malar flattening Zygomatic flattening 0000272 Mandibular prognathia [rarediseases.info.nih.gov]

impairment, dental issues, short stature, and neurologic symptoms. [encyclopedia.com]

Temporally jittered speech produces performance intensity, phonetically balanced rollover in young normal-hearing listeners. J Am Acad Audiol 2002 ; 13 : 50 –8 32 Stach, BA, Hornsby, BWY, Rosenfeld, MAL, De Chicchis, AR. [cambridge.org]

A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias. [books.google.com]

The recurrent fractures affect, mainly, the lower limbs. 30 Osteopoikilosis means spotted bones, which are confused with bone metastases from prostate and breast cancer. 31 It is incidentally found by the presence of circular lesions of osteosclerosis [elsevier.es]