In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

stature Decreased body height Small stature [ more ] 0004322 Thickened ribs 0000900 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of [rarediseases.info.nih.gov]

Hardening of base of skull * Thickening of base of facial bones * Hardening of base of facial bones * Hearing loss * Facial weakness * Obliteration of paranasal sinuses * Obliteration of basal skull foramin * Hardening of bone throughout the body * Epilepsy [checkorphan.org]

* Leg weakness * Bowel incontinence * Urinary incontinence * Enlarged vertebrae * Enlarged long bones Causes - Schaefer Stein Oshman syndrome Not supplied. [checkorphan.org]

nose Ski jump nose [ more ] 0011120 Cortical sclerosis 0005652 Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Craniofacial osteosclerosis 0005464 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat [rarediseases.info.nih.gov]

loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ] 0000529 Short stature Decreased body height Small stature [ more ] 0004322 Thickened ribs 0000900 [rarediseases.info.nih.gov]

impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ] 0000529 Short stature Decreased body height Small stature [ more ] 0004322 Thickened ribs 0000900 Wide nasal bridge Broad nasal bridge Broad nasal root [rarediseases.info.nih.gov]

Registries for Schaefer Stein Oshman syndrome: International Skeletal Dysplasia Registry (ISDR) These resources provide more information about this condition or associated symptoms. [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Thickened ribs 0000900 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased [rarediseases.info.nih.gov]

Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased intracranial pressure Rise in pressure inside skull 0002516 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Macrocephaly [rarediseases.info.nih.gov]

impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased intracranial pressure Rise in pressure inside skull 0002516 Infantile onset Onset in first year of life Onset in infancy [ more [rarediseases.info.nih.gov]

impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased intracranial pressure Rise in pressure inside skull 0002516 Infantile onset Onset in first year of life Onset in infancy [ more [rarediseases.info.nih.gov]

nasal root [ more ] 0005280 Diaphyseal sclerosis Increased bone density in shaft of long bone 0003034 Elevated alkaline phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Increased alkaline phosphatase Increased serum alkaline [rarediseases.info.nih.gov]

nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ] 0003155 Elevated circulating parathyroid hormone level 0003165 Facial diplegia 0001349 Headache Headaches 0002315 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism [rarediseases.info.nih.gov]

nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Diaphyseal sclerosis Increased bone density in shaft of long bone 0003034 Elevated [rarediseases.info.nih.gov]

Headaches 0002315 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased intracranial pressure Rise in pressure inside skull 0002516 Infantile onset Onset in first year of [rarediseases.info.nih.gov]

[…] of skull Large head Large head circumference [ more ] 0000256 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Optic atrophy 0000648 Papilledema [rarediseases.info.nih.gov]

incontinence * Enlarged vertebrae * Enlarged long bones Causes - Schaefer Stein Oshman syndrome Not supplied. [checkorphan.org]

* Urinary incontinence * Enlarged vertebrae * Enlarged long bones Causes - Schaefer Stein Oshman syndrome Not supplied. [checkorphan.org]

bone density in shaft of long bone 0003034 Elevated alkaline phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ] 0003155 Elevated circulating parathyroid [rarediseases.info.nih.gov]

phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ] 0003155 Elevated circulating parathyroid hormone level 0003165 Facial diplegia 0001349 Headache Headaches 0002315 Hearing impairment Deafness Hearing defect [ more [rarediseases.info.nih.gov]