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37 Possible Causes for Delayed Bone Age, Hypertrichosis of Eyebrows, Short Stature in Children

  • SHORT Syndrome

    bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.[ncbi.nlm.nih.gov] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com]

  • Schwartz-Jampel Syndrome

    […] maturation delay.[scielo.br] stature and skeletal dysplasia.[ncbi.nlm.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net]

  • Rubinstein-Taybi Syndrome

    Additional observations include maternal pre-eclampsia (2/9), syndactyly (3/9), feeding or swallowing issues (3/9), delayed bone age (2/9) and scoliosis (2/9).[ncbi.nlm.nih.gov] Children with RTS usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size.[cafamily.org.uk] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Coffin-Lowry Syndrome

    Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired.[genedx.com] Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short[ncbi.nlm.nih.gov] Involvement of the musculoskeletal system presents as short thorax, bifid sternum, pectus excavatum or carinatum, vertebral dysplasia, kyphosis, scoliosis, delayed bone age[accessanesthesiology.mhmedical.com]

  • Acrootoocular Syndrome

    bone age Skeletal Feet: small feet widely spaced 1st-2nd toes zygodactyly short 3rd-4th toes protruding calcaneus Growth Weight: birthweight Abdomen Gastrointestinal: multiple[malacards.org] More than half of patients, in some series, meet the criteria for mental retardation. 54 Less frequent features include microcephaly, short stature, slender hands and digits[ajnr.org] A down sloping V-shaped configuration of the eyebrows as they met and extended onto the upper part of the nasal bridge is common. Brow hypertrichosis may be observed.[entokey.com]

  • Fucosidosis

    By contrast, his elder sibling showed far greater developmental delay at the same age. The patient's MRI scan shows improvement.[ncbi.nlm.nih.gov] We believe this to be the first case of human fucosidosis treated by bone marrow transplantation.[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type Bieganski

    bone age joint contractures Skin Nails Hair Hair: low frontal hairline prominent eyebrows Skeletal Limbs: widened metaphyses small flattened epiphyses (distal femora and[malacards.org] The main clinical features were short stature, abnormal face, skeletal deformities, and progressive mental retardation.[omim.org] The hallmark of epiphyseal changes was markedly delayed ossification (bone age).[epidemiologie-sousse.org]

  • Wiedemann-Steiner Syndrome

    Therefore, we propose that both of advanced bone age and delayed bone age are authentic phenotype of WDSTS caused by KMT2A variation.[ojrd.biomedcentral.com] Investigation of pituitary function should be undertaken in children with WSS and short stature.[ncbi.nlm.nih.gov] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Oto-Facio-Osseous Gonadal Syndrome

    , fusion of carpal bones, delayed bone age and congenital clubfeet.[ncbi.nlm.nih.gov] This described 9 children who in addition to congenital heart disease had characteristic faces, chest deformities and short stature.[en.academic.ru] Hip dysplasia Abnormality of the ribs Sleep disturbance Hirsutism Thick eyebrow Malabsorption Corneal opacity Drooling Developmental regression Difficulty walking Wide mouth[mendelian.co]

  • Autosomal Dominant Mental Retardation Type 21

    Bone age is delayed in the first decade of life.[content.sciendo.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org] Children appear petite and are often short in stature. Scalp hair is thin, especially in the frontal and occipital areas, and the skin is atrophic.[disorders.eyes.arizona.edu]

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