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51 Possible Causes for Frontal Bossing, Hypertrichosis of Eyebrows, Short Stature in Children

  • Fucosidosis

    bossing 0002007 Hernia 0100790 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation[rarediseases.info.nih.gov] 0002059 Cervical platyspondyly 0004558 Coxa valga 0002673 Dry skin 0000958 Elevated sweat chloride 0012236 Flexion contracture Flexed joint that cannot be straightened 0001371 Frontal[rarediseases.info.nih.gov]

  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

  • Thanatophoric Dysplasia

    On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks' gestation and a small thorax and short and bowed long bones[ncbi.nlm.nih.gov] 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]

  • Coffin-Lowry Syndrome

    Facial abnormalities (hypertelorism, frontal bossing, thick lips) become apparent in early childhood.[orpha.net] 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] The prominent frontal bossing, hypertelorism, downward slant of the eyes toward relatively concave maxillae, prognathism of the mandible, crowded teeth, thick nasal septum[doi.org]

  • SHORT Syndrome

    Frontal bossing with a hypoplastic mandible. One leg is shorter than the other, with a pelvic tilt. Intelligence is normal.[accessanesthesiology.mhmedical.com] 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]

  • BOD Syndrome

    Diseases related with Frontal bossing and Thick eyebrow In the following list you will find some of the most common rare diseases related to Frontal bossing and Thick eyebrow[mendelian.co] […] clinical features ...linical-features] {3:Senior (1971)} described 6 'short children with tiny fingernails.'[bio2rdf.org] […] and eyelash hypertrichosis, diffuse hirsutism and, most typically, hypoplastic to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes[cambridge.org]

  • Wiedemann-Steiner Syndrome

    The typical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. We present two families, with GCPS with a non-syndromic phenotype,...[connection.ebscohost.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]

  • Rubinstein-Taybi Syndrome

    bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ][rarediseases.info.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]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    bossing Downslanted palpebral fissures Nephroblastoma Strabismus Hypertelorism Multiple impacted teeth Plantar hyperkeratosis Hepatoblastoma Adrenocortical adenoma Medulloblastoma[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]

  • Autosomal Dominant Mental Retardation Type 21

    bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal[icd10data.com] Affected children have a short stature with an average height below the 5th percentile. 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]

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