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608 Possible Causes for Macrocephaly, Short Stature in Children

  • Achondroplasia

    The most common reasons for short stature in children are familial short stature, a difference in the timing of growth (called constitutional growth delay) and, in girls,[gemssforschools.org] Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly.[ncbi.nlm.nih.gov] Sixteen children with ACH (aged 0·4-4·3 years), six children with HCH (2·7-6·3 years), 23 children with idiopathic short stature (ISS) (2·2-9·0 years), eight short children[ncbi.nlm.nih.gov]

  • Hypochondroplasia

    Sixteen children with ACH (aged 0·4-4·3 years), six children with HCH (2·7-6·3 years), 23 children with idiopathic short stature (ISS) (2·2-9·0 years), eight short children[ncbi.nlm.nih.gov] Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly.[ncbi.nlm.nih.gov] In addition to the obvious limb deformities of short stature and bowing, children with achondroplasia typically have frontal bossing (prominent forehead), midface hypoplasia[paleyinstitute.org]

  • Mucopolysaccharidosis

    Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]

  • Mucopolysaccharidosis 6

    Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[egl-eurofins.com] These include abnormally large head, frequent ear and respiratory infections, and short stature in children A healthcare professional can use various diagnostic tools, such[dovemed.com] The features of MPS VI include macrocephaly, hydrocephalus and macroglossia.[ivami.com]

  • Mucopolysaccharidosis 2

    Other symptoms may include: carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness and a large head (macrocephaly).[secure.ssa.gov] The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.com] MPS IIA Common presenting signs and symptoms in children with classic MPS IIA include progressive coarsening of facial features, short stature, joint stiffness, hepatosplenomegaly[emedicine.medscape.com]

  • SHORT Syndrome

    This is the first report indicating a role for BMP4 in SHORT syndrome, Axenfeld-Rieger malformation, growth delay, macrocephaly, and diaphragmatic hernia.[ncbi.nlm.nih.gov] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] BMP4 loss of function mutations have been described in patients with SHORT syndrome, Axenfeld-Rieger malformation, growth delay, macrocephaly, and diaphragmatic hernia.[indianpediatrics.net]

  • Mucopolysaccharidosis 1

    Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and[verywell.com] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com]

  • Mucopolysaccharidosis 7

    The symptoms include: in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped[en.wikipedia.org] Only 2 pathogenic variants have been reported for the HYAL1 gene: Missense mutation c.802G A; p.E268K reported in association with short stature phenotype 35 Small deletion[centogene.com] The features of MPS VII include a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "[ghr.nlm.nih.gov]

  • Robinow Syndrome

    The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[ncbi.nlm.nih.gov] Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature.[rarediseases.org] To the Editor: We report a father and daughter with Robinow syndrome characterized by macrocephaly, hypertelorism, brachydactyly, short arms, and mild short stature ( Fig.[nature.com]

  • Septo-Optic Dysplasia

    […] abnormalities Q04 ICD-10-CM Diagnosis Code Q04 Other congenital malformations of brain 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cyclopia ( Q87.0 ) macrocephaly[icd10data.com] Compared to other children referred for evaluation of short stature, children with SOD were younger (mean age 3.7 /- 3.6 vs 8.6 /- 4.9 years), had less severe short stature[ncbi.nlm.nih.gov] We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay[ncbi.nlm.nih.gov]

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