These abnormalities can lead to severe neurological problems, including headaches, abnormal vision and balance, a buildup of fluid in the brain (hydrocephalus), abnormal breathing, and sudden death. [ghr.nlm.nih.gov]

Her height was at the 50th centile but she had short neck, and a disproportionately short trunk, attributable to an evolving scoliosis ( Figure 1f ). [nature.com]

impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Macrocephaly Increased size of skull Large head [rarediseases.info.nih.gov]

Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear. [emedicine.medscape.com]

impairment, enlarged vestibular aqueduct, and goiter, see Pendred syndrome autosomal recessive spastic ataxia of Charlevoix-Saguenay autosomal recessive spastic paraplegia 15, see spastic paraplegia type 15 autosomal recessive spastic paraplegia 5A, [mygenomics.com]

Previously the delineation of these two disorders has primarily been through the presence of serpentine fibulae in SFPKS, while individuals with HCS have acro-osteolysis and coarse hirsute facial features. [nature.com]

Short stature, early loss of permanent teeth and hirsutism are observed in adults. Cystic kidney disease is rare but an essential syndromic component in a subset of patients. [orpha.net]

narrow head Tall and narrow skull [ more ] 0000268 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Generalized hirsutism [rarediseases.info.nih.gov]

Differential diagnosis Differential diagnoses may include pycnodysostosis and Hutchinson-Gilford progeria syndrome (see these terms) based on clinical and x-ray findings, however, patients lack premature aging seen in progeria and increased bone density [orpha.net]