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157 Possible Causes for Muscle Hypotonia, Sacral Dimple

  • Wiedemann-Steiner Syndrome

    dimple, hypertrichosis.[geneticdisordersuk.org] Wiedemann–Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia).[en.wikipedia.org] dimple Spinal dimple 0000960 Seizures Seizure 0001250 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Percent of people who have these symptoms is not[rarediseases.info.nih.gov]

  • Prieto Syndrome

    dimple in lower back * Clinodactyly * Partially dislocated knee * Subcortical cerebral atrophy * Abnormal walk * Low set ears * Abnormal dermatoglyphics * High forehead *[checkorphan.org] Low or weak muscle tone 0001252 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Osteoporosis 0000939 Patellar dislocation Dislocated kneecap 0002999 Patellar[rarediseases.info.nih.gov] […] and symptoms mentioned in various sources for Mental retardation X-linked dysmorphism includes the 20 symptoms listed below: * Mental retardation * Abnormal tooth growth * Skin[checkorphan.org]

  • Dubowitz Syndrome

    Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen.[ncbi.nlm.nih.gov] 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] Skeletal abnormalities in DS include sacral dimple, and clinodactyly (5th fingers), with cutaneous syndactyly of toes or fingers.[orpha.net]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality.[unboundmedicine.com] The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding[icdlist.com] Sacral dimple MedGen UID: 98428 • Concept ID: C0426848 • Finding A small hollow area or sinus present at birth and located just above the crease of the buttocks.[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    dimples.[ncbi.nlm.nih.gov] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] hypotonia, seizures, and congenital heart defects.[en.wikipedia.org]

  • Cerebro-Facio-Articular Syndrome

    He had a pectus deformity, sacral dimple, bilateral pes planus and a mild metatarsus adductus. There was moderate developmental delay.[nature.com] , bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease ...[kegg.jp] Besides the genital malformation mentioned above (micropenis, bifid scrotum) an antepositioned anus and a sacral dimple were noted. He had muscular hypotonia. 3.[kundoc.com]

  • Camptodactyly Syndrome Type Guadalajara III

    dimple IEA IEA 17.02.2009 MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I HP:0000995 Pigmented nevi IEA IEA 17.02.2009 MIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA[sourceforge.net] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability[rarediseases.info.nih.gov] CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco Related symptoms: Autosomal recessive inheritance Autosomal dominant inheritance Seizures Generalized hypotonia Pica[mendelian.co]

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    dimple Short chin Low-set ears Smooth philtrum Macrodontia Malar rash Nevus flammeus of the forehead Thin vermilion border Hypertension Short foot Absent eyelashes Sparse[mendelian.co] Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood.[ncbi.nlm.nih.gov] […] body weight Abnormal cardiac septum morphology Pes planus Triangular face High, narrow palate Posteriorly rotated ears Small hand Pointed chin Decreased head circumference Sacral[mendelian.co]

  • Chromosome 17p13.1 Deletion Syndrome

    dimple Preauricular skin tag Heterotopia Postaxial polydactyly Constipation Joint contracture of the hand Choanal atresia Lumbar hyperlordosis Microcornea Iris coloboma Hernia[mendelian.co] […] from OMIM: 57 Head And Neck Neck: short neck webbed neck (in some patients) Growth Other: feeding difficulties Head And Neck Nose: prominent nasal bridge upturned nasal tip Muscle[malacards.org] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 High palate Elevated palate Increased palatal height [ more[rarediseases.info.nih.gov]

  • Autosomal Dominant Mental Retardation 21

    dimples [13] .[sonoworld.com] A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.[mitomap.org] dimple), carrying a 1.53 Mb interstitial deletion at 4q28.3.[cordis.europa.eu]

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