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90 Possible Causes for Almond-Shaped Eyes, Microcephaly, Muscle Hypotonia

  • Velocardiofacial Syndrome

    Learning disabilities occur often; short stature, slender hyperextensible hands and digits, scoliosis, mental retardation, inguinal hernia, auricular abnormalities, and microcephaly[medical-dictionary.thefreedictionary.com] Typical facial features include a long face, small almond shaped eyes, a wide bridged nose, and malformations of the ear.[genedx.com] Distinct physical features sometimes associated with the syndrome include loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference[rarediseases.org]

  • Down Syndrome

    RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[ncbi.nlm.nih.gov] Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue[cdc.gov] From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.org]

  • CK Syndrome

    OMIM : 57 CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations[malacards.org] , bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary[eyewiki.aao.org] The clinical features of the affected males in the family manifested as weak fetal movements, severe intellectual disability, seizures, spasticity, atrophy of optic discs, microcephaly[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    AS is characterised by severe mental retardation, microcephaly, seizures, characteristic abnormal behaviours – including apparent happy demeanour and hand-flapping movements[nibsc.org] The clinical appearance of PWS includes dysmorphic facial features with almond-shaped eyes, a narrow bifrontal diameter, and a thin upper lip; short stature; central obesity[ncbi.nlm.nih.gov] Because of weak muscles (hypotonia), the infant is not able to drink from a bottle and may need special feeding techniques or tube feedings until his/her muscles become stronger[rarediseases.about.com]

  • Dubowitz Syndrome

    A small head, often with a receding forehead, large ears and nose is often an associated feature of other disorders, rarely occurring in isolation.[web.archive.org] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov]

  • Macrocephaly-Developmental Delay Syndrome

    Babies with mild microcephaly often don’t experience any other problems besides small head size.[cdc.gov] He had a long face with bitemporal narrowing, almond-shaped eyes, and slightly flat nasal bridge.[clinchem.aaccjnls.org] Cohen Syndrome Malformations of the head and facial (craniofacial) area, eye (ocular) abnormalities, diminished muscle tone (hypotonia), obesity, abnormally narrow hands and[apraxia-kids.org]

  • Autosomal Dominant Mental Retardation 5

    MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger- or toenails, coarse facies, sparse scalp hair, thick eyebrows, long eyelashes, microcephaly[medical-dictionary.thefreedictionary.com] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[medical-dictionary.thefreedictionary.com]

  • Autosomal Dominant Mental Retardation 21

    In the selected families microcephaly seems to be inherited in an autosomal dominant manner.[jamanetwork.com] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] Additional MRD21 features include short stature, microcephaly, and developmental delay.[uniprot.org]

  • Congenital Disorder of Glycosylation Type 9

    We report on 7 patients with psychomotor delay, microcephaly, strabismus and coagulation abnormalities, seizures and abnormal fat distribution.[pediatrics.aappublications.org] These may include inverted nipples, poor muscle tone, almond shaped eyes which are crossed, a large forehead, an unusual distribution of body fat, and abnormal genitals.[counsyl.com] These functional and morphological changes in postsynapses and muscle fibers cause hypotonia in patients with CDG.[link.springer.com]

  • Joubert Syndrome Type 3

    In infants and children with the disorder, characteristic craniofacial malformations may include an unusually small head (microcephaly); abnormal shortness of the groove in[apraxia-kids.org] , bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary[eyewiki.aao.org] Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood.[ghr.nlm.nih.gov]

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