Pediatric diseases related to calcium. New York: Elsevier, 1980:269-89. 8. Silverthorn KG, Houston CS, Duncan BP. Murk Jansen's metaphyseal chondrodysplasia with long-term followup. Pediatr Radiol 1987 ;17: 119 - 123 9. Kessel D, Hall CM, Shaw DG. [content.nejm.org]

The infant had tachypnea and cyanosis due to micrognathia, which were relieved by oral intubation. Except for marked bowing of both femurs, no other abnormalities were noted on physical examination. [content.nejm.org]

[…] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis [ipfs.io]

Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome ) · FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) · INSR ( Donohue syndrome · Rabson–Mendenhall syndrome) · NTRK1 ( Congenital insensitivity to pain with anhidrosis [en.academic.ru]

hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. [orpha.net]

JMC is usually characterized by short stature, bowed legs, waddling gait, contracture deformities of the joints, and short hands with clubbed fingers. Until now, four distinct mutations in PTH1R have been described in patients affected by JMC. [iofbonehealth.org]

hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.Visit the Orphanet disease page for more resources. [malacards.org]

hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone -independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. [rarediseases.info.nih.gov]

In contrast, the three affected members of this new family showed only mild skeletal dysplasia, comparatively normal stature, and blood calcium concentrations either within or at the upper end of the normal range. [ncbi.nlm.nih.gov]

impairment Deafness Hearing defect [ more ] 0000365 Hip contracture 0003273 Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Hypercalciuria Elevated urine calcium levels 0002150 Hyperphosphaturia High urine phosphate [rarediseases.info.nih.gov]

section because of cephalopelvic disproportion. [content.nejm.org]

[…] type Disease definition Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling [orpha.net]

MalaCards based summary : Metaphyseal Chondrodysplasia, Jansen Type, also known as metaphyseal chondrodysplasia, murk jansen type, is related to extraskeletal chondroma and sclerosing hepatic carcinoma, and has symptoms including waddling gait An important [malacards.org]

gait * Clinodactyly * Short fingers * Clubbed fingers * Hyperostosis of calvarium * Thick dense skull base * Hypercalcemia * Deafness * Short long bones * Bowed long bones Causes - Jansen type metaphyseal chondrodysplasia Not supplied. [checkorphan.org]

gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 31 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]

CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia [ipfs.io]

· TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP: LRP2 ( Donnai-Barrow syndrome ) · LRP4 ( Cenani Lenz syndactylism ) · LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia [en.academic.ru]