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415 Possible Causes for Macrocephaly, Mental Retardation, Round Face

  • Mucopolysaccharidosis

    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] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.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] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.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] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com]

  • Neuhauser Syndrome

    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] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov] Megalocornea and mental retardation syndrome. Am J Med Genet 1988;29:221-223. [ Links ] 4. Gronbech-Jensen M. Megalocornea and mental retardation syndrome: a new case.[scielo.br]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] Obesity, particularly early-onset obesity, and macrocephaly relative to height might be part of AHO 26, 27, 28.[doi.org] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion. Am J Med Genet A. 2016 [ PubMed ] [ Google Scholar ] 14.[ncbi.nlm.nih.gov] Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like[degruyter.com]

  • Congenital Muscular Dystrophy

    Severe scoliosis, macrocephaly, and nonambulatory status were common in LAMA2. Increasing age was associated with poor respiratory function in COL6A.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] Macrocephaly may be noted.[symptoma.com]

  • Prader-Willi Syndrome

    (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] The presence of macrocephaly, observed in other cases of SNORD116 deletions as well, is uncommon for the classic phenotype of the syndrome.[ncbi.nlm.nih.gov] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

  • Aarskog Syndrome

    face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[ncbi.nlm.nih.gov] His mother had minor abnormalities of the hands and feet, and slight mental retardation.[ncbi.nlm.nih.gov]

  • Sotos Syndrome

    Infants have a round face with prominent forehead and small chin.[encyclopedia.com] Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly.[ncbi.nlm.nih.gov] Abstract MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal[ncbi.nlm.nih.gov]

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