GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcephaly, Macrotia, and Mental Retardation Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism [rgd.mcw.edu]

Frequent (79-30%) HP:0000002 7 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003 8 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365 9 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490 10 osteopenia [malacards.org]

[…] eyes Sunken eye [ more ] 0000490 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic ilia 0000946 Multicystic kidney dysplasia 0000003 Osteopenia [rarediseases.info.nih.gov]

He also had severe bone-age retardation and exhibited mild signs of skeletal dysplasia, including generalized osteopenia, epiphyseal hypoplasia, hypoplastic iliac bones with irregular acetabular margins, and thin tubular bones. [omim.org]

Phenotypes for Rhyns Syndrome Symptoms via clinical synopsis from OMIM: 57 Skel: skeletal dysplasia Endocrine: growth hormone deficiency hypopituitarism thyroid stimulating hormone deficiency GI: liver fibrosis GU: nephronophthisis renal failure Eyes: enophthalmos [malacards.org]

Discussion Retinitis pigmentosa has been described with facial [3] and eyelid anomalies including unilateral upper eyelid ptosis and enophthalmos [4] previously but not with BPES. [ijo.in]

Pig Toes and Poor Vision Many are aware of Sawyer's kidney failure, but most do not know about his chronic eye issue. In 2009, Karen and I observed Sawyer struggling with symptoms of blindness in low light situations. [debause.com]

Eventually the patient may have symptoms such as nausea, vomiting, weight loss, fatigue, anemia and ultimately kidney failure. [rarediseases.org]

failure Shaken baby syndrome Treatment [ edit ] Treatment is supportive. [1] Mannitol may be used to help with the brain swelling. [2] Prognosis [ edit ] Documented cases of Reye syndrome in adults are rare. [en.wikipedia.org]