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100 Possible Causes for Macrocephaly, Psychomotor Regression, Round Face

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Progression varies from a severe form (MPS2, severe form) with early psychomotor regression to an attenuated form (MPS2, attenuated form) which manifests without cognitive[orpha.net] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis

    Progression varies from a severe form (MPS2, severe form) with early psychomotor regression to an attenuated form (MPS2, attenuated form) which manifests without cognitive[orpha.net] 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] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com]

  • Mucopolysaccharidosis 1

    Most patients have shown an arrest or slowing down of psychomotor regression. However, dysostosis multiplex has progressed.[adc.bmj.com] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.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]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] regression.[clinicaladvisor.com] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • Congenital Muscular Dystrophy

    LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.[pediatricneurosciences.com] Severe scoliosis, macrocephaly, and nonambulatory status were common in LAMA2. Increasing age was associated with poor respiratory function in COL6A.[ncbi.nlm.nih.gov] LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.[ncbi.nlm.nih.gov]

  • Cutis Marmorata Telangiectatica Congenita

    , microphthalmia, sclerocornea Textbook of Neonatal Dermatology, p.127, 2001 Xeroderma pigmentosum Ghatan p.5, 2002, Second Edition TRAUMA Acupuncture – atrophic round scars[yumpu.com] At that point of time, exam of the child showed a partial but substantial regression of skin changes.[ircmj.portal.tools] We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia[ncbi.nlm.nih.gov]

  • Psychomotor Retardation

    Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] See also Psychomotor regression Additional information about genetic tests may be available in RCPA Catalogue of Genetic Tests and Laboratories .[rcpa.edu.au] We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia.[ncbi.nlm.nih.gov]

  • Pelviscapular Dysplasia

    face Pulmonic stenosis Sacral dimple Smooth philtrum Micromelia Abnormal cardiac septum morphology Craniosynostosis Low-set, posteriorly rotated ears Wide mouth Thin upper[mendelian.co] […] spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease Infantile spasms Infantile spinal muscular atrophy Infantile subacute necrotizing encephalopathy[csbg.cnb.csic.es] Symptoms List: Pelviscapular dysplasia Symptoms and clinical features may include: 1 Clinical Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment[familydiagnosis.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    face Full cheeks Spastic gait Aspiration Broad neck Hypomimic face Strabismus Recurrent respiratory infections Feeding difficulties Hyperactivity Neonatal hypotonia Prominent[mendelian.co] Psychomotor involvement is usually progressive. An apparent period of normal development can precede the regression.[clinicaladvisor.com] Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / ADHD / developmental delays.[rasopathiesnet.org]

  • Platyspondyly

    Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent[mendelian.co] […] prognathia Hyperlordosis Pes planus Small hand Myelopathy Limited elbow extension Decreased body weight Short phalanx of finger Functional respiratory abnormality Relative macrocephaly[mendelian.co] Related symptoms: Autosomal recessive inheritance Autosomal dominant inheritance Pica Micrognathia Macrocephaly SOURCES: UMLS OMIM MONDO More info about FIBROCHONDROGENESIS[mendelian.co]

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