One case of fatal encephalitis. [109] Some cases with spasticity, cognitive delay or deficits, and/or developmental delay, and cerebral calcifications (late-onset). [109] [110] Auditory: Normal hearing. Recurrent or frequent otitis media. [autoinflammatory-search.org]

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep [se-atlas.de]

In addition, they also have progressive acanthosis nigricans, CNS abnormalities, epilepsy and severe developmental delay [ 21 ]. [intechopen.com]

The clinical features include global developmental delay, facial dysmorphism, narrow chest, prominent abdomen, and short stature due to limbs shorting. [mjdrdypu.org]

– At the onset of disease, global developmental delay is usually very subtle. – Once the delay becomes obviously, neurodeterioration begins and becomes progressive. – The clinical picture is of chronic encephalopathy, which is characterized by both [clinicaladvisor.com]

The SLAC wrist: scapholunate advanced collapse pattern of degenerative Arthritis. J Hand Surg [Am] 1984: 9-A:358-65. ‏ الصفحة 308 - Arnett FC, Edworthy SM, Bloch DA. McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS. [books.google.com]

These infants may exhibit apnea or vasomotor collapse similar to spinal shock. Imaging survey in suspected abuse Radiographic skeletal survey is necessary in all children less than 2 years old suspected of abuse. [radiologyassistant.nl]

Osteoporosis leads to collapse of vertebral end plates, contributing to worsening kyphoscoliosis. Pectus excavatum or pectus carinatum adds to thoracic deformity. [nature.com]

Specialty Oncology Symptoms Yellow skin, abdominal or back pain, unexplained weight loss, light-colored stools, dark urine, loss of appetite [1] Usual onset After 40 years old [2] Risk factors Tobacco smoking, obesity, diabetes, certain rare genetic conditions [en.wikipedia.org]

Adverse events associated with SRT (miglustat) include gastrointestinal problems (diarrhea, stomach pain or bloating and weight loss) and muscle cramps, especially in lower extremities associated with tremors, unsteady gait, and dizziness. [clinicaladvisor.com]

Tumors in the head of the pancreas typically also cause jaundice, pain, loss of appetite, dark urine, and light-colored stools. [en.wikipedia.org]

[…] long bone of hand 0001163 Short stature Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of the voice Voice abnormality 0001608 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Microdontia [rarediseases.info.nih.gov]

Craniofacial phenotype is represented by stellate iris, periorbital oedema, flattening of nasal pyramid, short nose with anteverted nostrils, long philtrum, macrostomy, thick lips, microdontia, multiple diastema, dental malocclusion and micrognathia. [intechopen.com]

Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.Visit the Orphanet disease page for more resources. [malacards.org]

Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Last updated: 9/7/2017 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Spine and Pelvis Platyspondyly 9. [slideshare.net]

Spinal defects: platyspondyly, irregularities in the vertebral endplates. [109] Cartilage is affected (ears and nose too). [108] Some with concurrent Juvenile Rheumatoid Arthritis (JRA). [autoinflammatory-search.org]

Radiographic findings are widening, scalloping, and irregularity of the metaphysis of long tubular bones, shortness of the femoral neck, progressive coxa vara, severe and diffuse platyspondyly of vertebral bodies, delay in ossification of carpal bones [mjdrdypu.org]

Name Ulna Metaphyseal Dysplasia Syndrome Synonyms METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE Classification bone, developmental, genetic Phenotypes Abnormality of the vertebral column ; Autosomal dominant inheritance ; Coxa valga ; Delayed skeletal [mousephenotype.org]

Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Last updated: 9/7/2017 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

The legs bow outwards with variable deformity of the hips (both coxa vara and coxa valga are seen 1 ). The lower ribs may also be drawn inwards inferiorly by the attachment of the diaphragm ( Harrison's sulcus ). [radiopaedia.org]

Delayed femoral head appearing, coxa valga or, on the contrary, coxa vara are common findings. Valgus deformity of the knees, associated to flexion contracture, is another common finding. [gait.aidi.udel.edu]

The acetabulae and proximal ends of the femora were horizontal and coxa valga was present. 3. The twelfth thoracic vertebral body was hypoplastic and posteriorly displaced. The other vertebral bodies were oval and large calcaneal spurs were present. [czytelniamedyczna.pl]

Dysplasia Syndrome Synonyms METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE Classification bone, developmental, genetic Phenotypes Abnormality of the vertebral column ; Autosomal dominant inheritance ; Coxa valga ; Delayed skeletal maturation ; Hypercalcemia ; Wrist [mousephenotype.org]

Symptoms - Ulna metaphyseal dysplasia syndrome Wrist pain Thickened wrists Irregular metaphyses Thickened dorsum sellae Wedged vertebrae Causes - Ulna metaphyseal dysplasia syndrome Not supplied. [checkorphan.org]

pain 0030836 Showing of 18 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). [malacards.org]

Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. [rarediseases.info.nih.gov]

This may cause knee or ankle pain and may require osteotomies. [nature.com]

Adverse events associated with SRT (miglustat) include gastrointestinal problems (diarrhea, stomach pain or bloating and weight loss) and muscle cramps, especially in lower extremities associated with tremors, unsteady gait, and dizziness. [clinicaladvisor.com]

Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of the voice Voice abnormality 0001608 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Microdontia Decreased width of tooth 0000691 Nephrolithiasis [rarediseases.info.nih.gov]

[…] microduplication syndrome Distal arthrogryposis Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal monosomy 3p Distal monosomy 6p Distal symphalangism Distal tetrasomy 15q Distal trisomy 15q Dobrow syndrome Dominant hypophosphatemia with nephrolithiasis [se-atlas.de]

Radiographic at the age of 3 1/2 months revealed distinctive skeletal changes, notably delayed bone age and metaphyses of the tubular bones which were cupped, with pointed edges. [czytelniamedyczna.pl]

The patients often present a delayed bone age and low levels of IGF1. [intechopen.com]

Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of the voice Voice abnormality 0001608 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Microdontia Decreased width of tooth 0000691 Nephrolithiasis [rarediseases.info.nih.gov]

[…] microduplication syndrome Distal arthrogryposis Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal monosomy 3p Distal monosomy 6p Distal symphalangism Distal tetrasomy 15q Distal trisomy 15q Dobrow syndrome Dominant hypophosphatemia with nephrolithiasis [se-atlas.de]