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27 Possible Causes for Coxa Valga, Hypertrichosis of Eyebrows, Short Stature in Children

  • Fucosidosis

    The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga.[themedicalbiochemistrypage.org] valga 0002673 Dry skin 0000958 Elevated sweat chloride 0012236 Flexion contracture Flexed joint that cannot be straightened 0001371 Frontal bossing 0002007 Hernia 0100790[rarediseases.info.nih.gov] 0004630 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Cerebral atrophy Degeneration of cerebrum 0002059 Cervical platyspondyly 0004558 Coxa[rarediseases.info.nih.gov]

  • Schwartz-Jampel Syndrome

    The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com] 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]

  • Coffin-Lowry Syndrome

    […] color of hands, feet, or parts of face 0001063 Bifid sternum 0010309 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Coarse hair Coarse hair texture 0002208 Coxa[rarediseases.info.nih.gov] 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] valga 0002673 Cutis laxa Loose and inelastic skin 0000973 Cutis marmorata 0000965 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile[rarediseases.info.nih.gov]

  • Thanatophoric Dysplasia

    Coxa vara sau coxa valga; 6. It is also an easy- to- grow ornamental plant that can be grown on a variety of support structures.[azuwavynyj.tk] Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[mendelian.co]

  • Wiedemann-Steiner Syndrome

    Spastic tetraplegia Polyneuropathy Thick lower lip vermilion Lumbar hyperlordosis Neurodegeneration Progressive neurologic deterioration Dry skin Small for gestational age Coxa[mendelian.co] 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]

  • BOD Syndrome

    Other features are less common: congenital heart defects, central nervous system abnormalities, urogenital anomalies, dislocated radial head, coxa valga.[cambridge.org] […] clinical features ...linical-features] {3:Senior (1971)} described 6 'short children with tiny fingernails.'[bio2rdf.org] As the coxa valga comes to 180,its anterior projection is really an intertrochanteric flexion deformity of thefemur and does not reflect anteversion at all.[lumiererestaurant.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Lipodystrophy Dermal atrophy Hyperlipidemia Hyperinsulinemia Nasal speech Aspiration Broad-based gait Hypercholesterolemia Acanthosis nigricans Left ventricular hypertrophy Coxa[mendelian.co] Growth delays usually result in short stature (dwarfism).[rarediseases.org] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.net]

  • Familial Isolated Trichomegaly

    valga / coxa vara / coxa plana - Hypereflexia - Hypertelorism - Hypotonia - Long / large / bulbous nose - Long / thick / curved lashes / trichomegaly / polytrichia - Low[csbg.cnb.csic.es] […] eyelashes in a case series of 93 children with vernal keratoconjunctivitis. ( 15629970 ) Pucci N....Vierucci A. 2005 42 A case of familial trichomegaly in association with[malacards.org] […] of eyebrows.[genecards.org]

  • Warburg Micro Syndrome 3

    COFS is characterized by blepharophimosis, camptodactyly, arthrogryposis, generalized osteoporosis, dysplastic acetabula, coxa valga, and vertical talus manifesting as rocker[pediatricneurosciences.com] […] microphthalmia, congenital cataract, ptosis, short stature, severe mental retardation, and cerebral malformations.[cags.org.ae] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org]

  • Epiphyseal Chondrodysplasia Type Miura

    Format Definition An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and[uniprot.org] […] second most common primary bone malignancy of children 60% arise in extremities femur pelvis tibia humerus metaphyseal (eccentric) or diaphyseal (central) most common ddx[cram.com] Aplasia/Hypoplasia of the eyebrow Umbilical hernia Amenorrhea Sensory neuropathy Carious teeth Generalized hypertrichosis Thin metacarpal cortices Metatarsal osteolysis Interphalangeal[mendelian.co]

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