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61 Possible Causes for Mild Frontal Bossing, Muscle Hypotonia

  • Neuhauser Syndrome

    Abnormally diminished muscle tone (hypotonia) and craniofacial abnormalities may be apparent at birth (congenital).[rarediseases.org] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org] Neurologically, he was seen to have normal muscle bulk, but generalized hypotonia, with dyspetria, past pointing, dysdiodochokinesia, and bilateral intentional tremors.[cags.org.ae]

  • Zellweger Syndrome

    The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[ncbi.nlm.nih.gov] Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; muscle hypotonia; sensorineural hearing loss; visual compromise; seizures[icd10data.com] They lack muscle tone (hypotonia), and are often blind or deaf. They have a distinctive facial appearance, an enlarged liver, and may have cysts in their kidneys.[encyclopedia.com]

  • Dandy-Walker Syndrome

    […] cerebellar vermis and fourth ventricle.[ 3 ] Infants with DWM may present with early signs such as vomiting, sleepiness, irritability, convulsions, unsteadiness and lack of muscle[ncbi.nlm.nih.gov] Clinical examination revealed frontal bossing, low-set floppy ears, coarse facial features with long arched eyebrows, broad and bulbous nose, full lower lip, and mild micrognathia[ojrd.biomedcentral.com] […] coordination.[ 4 ] The clinical manifestations include psychomotor and growth retardation, hypotonia, strabismus, myopia, a short neck, microcephaly, brachycephaly, hypertelorism[ncbi.nlm.nih.gov]

  • Craniofrontonasal Dysplasia

    Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.org] In our case, CFND was diagnosed in a female neonate who had unilateral coronal craniosynostosis, frontal bossing, orbital hypertelorism, broad nasal root, clefting nasal tip[kjp.or.kr] Low or weak muscle tone 0001252 Oral cleft Cleft of the mouth 0000202 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 Sandal gap[rarediseases.info.nih.gov]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Phenotype Kidney stone, nephrocalcinosis, rickets/osteomalacia, growth retardation, frontal bossing, increased fractures, bone pain, hypotonia, muscle weakness, difficulty[iofbonehealth.org] On physical examination he was irritable with mild genu valgus deformity and mild forehead frontal bossing.[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features,[diseaseinfosearch.org] The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, hypopigmented patches, frontal bossing, hearing loss, hypertrophic dilated cardiomyopathy[ncbi.nlm.nih.gov] This disorder is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, developmental delay/intellectual disability, distinctive facial features[secure.ssa.gov]

  • 22q11.2 Duplication Syndrome

    […] tone (hypotonia).[thinkgenetic.com] Patient 4 (first two panels) has left epicanthal fold, a broad nasal bridge, smooth philtrum and mild micrognathia; her sister (Patient 4S) has a frontal bossing, slightly[doi.org] Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia).[malacards.org]

  • Spondylometaphyseal Dysplasia

    Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.[cags.org.ae]

  • Psychomotor Retardation

    muscle wasting, and severe cerebellar and brainstem atrophy.[ncbi.nlm.nih.gov] bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay.[orpha.net] All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased[ncbi.nlm.nih.gov]

  • Macrocephaly-Developmental Delay Syndrome

    However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.org] […] short stature, frontal bossing, and mild dysmorphisms q21 q22.2 24341144 propositus Edit 13 17163539_1 46, XY, dup(7)(q21.1q31.3) [90]/ 46, XY, del(7)(q21.1q31.3) [10] [lymphocytes[chr7.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]

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