Clinical manifestations include: -progressive mental deterioration -coarsening of facial features -clouding of the corneas -organomegaly -skeletal dysplasia with joint contractures -inguinal hernias -thick coarse hair and bushy eyebrows This severe form [quizlet.com]

facial features, failure to thrive in infancy, short stature, curly/sparse fine hair, facial and/or perianal papillomata, loose soft skin with deep palmar and plantar creases, and developmental delay/ intellectual disability. [chginc.org]

The pedigree showed autosomal dominant inheritance, normal stature but diminished sweating, and abnormal teeth. Hair and nails were normal. [jmg.bmj.com]

Abdomen enlarged secondary to hepatosplenomegaly and evidence of dysostosis multiplex Speech and Hunter syndrome -articulaton becomes sluggish because the tongue becomes enlarged and the palate and aveolar ridges thickened, preventing normal tongue placement [quizlet.com]

The symptoms of Stickler syndrome may vary but include near-sightedness ( myopia ), retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age. 0000518 Corneal opacity 0007957 Myopia Close sighted Near [rarediseases.info.nih.gov]

impairment Huygen, PLM; Pennings, RJE; Cremers, CWRJ Hearing impairment in Stickler syndrome: a systematic review Acke, FR; Dhooge, IJ; Malfait, F; Leenheer, EM Effects of age on the distortion product otoacoustic emission growth functions Gates, GA; [deepdyve.com]

[…] phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter -axillary freckling -dysplastic tumore--cutaneous or subcutaneous; biopsy confirmation of neurofibroma (scoliosis is also a relatively common musculoskeletal findnig) -Hearing [quizlet.com]

[…] of the middle of the face, and the development of arthritis at a young age. 0000518 Corneal opacity 0007957 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Retinal detachment Detached retina 0000541 Sensorineural hearing [rarediseases.info.nih.gov]

Other features include cleft palate, premature arthritis, shallow eye sockets, a short lower jaw, and some hearing impairment (type I). The hearing deficit in type II tends to be more severe and hearing aids are more commonly needed. [disorders.eyes.arizona.edu]

nasal root [ more ] 0005280 Glaucoma 0000501 Joint hypermobility Double-Jointed Flexible joints Increased mobility of joints [ more ] 0001382 Long fingers 0100807 Malar flattening Zygomatic flattening 0000272 Micrognathia Little lower jaw Small jaw Small [rarediseases.info.nih.gov]

Clinical manifestations include: -progressive mental deterioration -coarsening of facial features -clouding of the corneas -organomegaly -skeletal dysplasia with joint contractures -inguinal hernias -thick coarse hair and bushy eyebrows This severe form [quizlet.com]

deterioration Limb-girdle muscular dystrophy Palmoplantar keratoderma-sclerodactyly syndrome Limb-body wall complex Lopes Gorlin syndrome Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension Acral peeling [checkrare.com]

Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). [books.google.com]