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1,885 Possible Causes for Round Face, Shortening of the Metatarsals, Tarsal Bone Age Advanced

  • Pseudopseudohypoparathyroidism

    A 31-year-old woman with the characteristic features of pseudopseudohypoparathyroidism, such as shortened metacarpals and metatarsals, round facies, and normal serum calcium[ncbi.nlm.nih.gov] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] Common musculoskeletal anomalies associated with PPH include shortening/bowing of long bones; shortening of metacarpals, metatarsals, and/or phalanges; exostoses; calcification[ncbi.nlm.nih.gov]

    Missing: Tarsal Bone Age Advanced
  • Pseudohypoparathyroidism

    Laboratory investigation revealed evidence of pseudohypoparathyroidism and skeletal survey showed shortening of the metacarpals and metatarsals.[ncbi.nlm.nih.gov] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] […] of the metatarsals corresponding to the 3rd and 4th toes.[hypopara.org.uk]

    Missing: Tarsal Bone Age Advanced
  • Pseudohypoparathyroidism Type 1A

    4th long bone of hand 0010044 Short 5th metacarpal Shortened 5th long bone of hand 0010047 Short fifth metatarsal Short 5th long bone of foot 0004704 Short neck Decreased[rarediseases.info.nih.gov] In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[ncbi.nlm.nih.gov] He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia.[ncbi.nlm.nih.gov]

    Missing: Tarsal Bone Age Advanced
  • Aarskog-Scott Syndrome

    […] fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.[ncbi.nlm.nih.gov] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov]

    Missing: Tarsal Bone Age Advanced
  • Desbuquois Dysplasia Type 2
    Missing: Shortening of the Metatarsals
  • Neuhauser Syndrome

    Short phalanges, metacarpals, or metatarsals, with or without polydactyly Premature ossification of the capital femoral epiphyses Childhood radiology may reveal the following[emedicine.medscape.com] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

    Missing: Tarsal Bone Age Advanced
  • Acrodysostosis

    Radiographic changes include severe shortening of metacarpals, metatarsals, and phalages, cone-shaped epiphyses of the hands and feet, premature fusion of the epiphyses, and[kjp.or.kr] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger[rarediseases.info.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short metacarpal Shortened long bone of hand[rarediseases.info.nih.gov]

    Missing: Tarsal Bone Age Advanced
  • Spondyloepiphyseal Dysplasia Type Cantú

    shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1[genda.com.ar] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] The metatarsal and phalanges of the first toe were relatively broader than normal; the metatarsal and its phalanges in the second toe were larger than the others.[docslide.com.br]

    Missing: Tarsal Bone Age Advanced
  • Kniest Dysplasia

    Note mild shortening of the fifth metacarpal of the hands. Figure 2 Radiographs of feet. Note the 2 nd and 4 th metatarsal bones and the great toe.[ojrd.biomedcentral.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]

    Missing: Tarsal Bone Age Advanced
  • Pseudohypoparathyroidism Type 2

    The radiological examination showed delayed bone age, immature uterus along with shortening of metacarpals and metatarsals of the 3 rd, 4 th and 5 th digits.[asean-endocrinejournal.org] face, dental dysplasia, dry coarse hair, mental retardation pseu·do·hy·po·par·a·thy·roid·ism ( sū'dō-hī'pō-par'ă-thī'royd-izm ) A disorder resembling hypoparathyroidism,[medical-dictionary.thefreedictionary.com] The most typical characteristics of the Albright phenotype are brachydactyly, with the literature describing a shortening of the third and fourth metacarpal and metatarsal[analesdepediatria.org]

    Missing: Tarsal Bone Age Advanced

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