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551 Possible Causes for Epicanthal Folds, Muscle Hypotonia

  • Homocystinuria

    The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[medicalhomeportal.org] Signs of HCY may include: Poor growth Trouble gaining weight Developmental delays Behavioral difficulties Weak muscle tone (also known as hypotonia) Pale skin and hair Seizures[babysfirsttest.org]

  • Pallister-Killian Syndrome

    folds large ears with lobes that are thick and protrude outward.[en.wikibooks.org] Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features,[diseaseinfosearch.org] 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]

  • Down Syndrome

    folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down , Down's , trisomy[merriam-webster.com] People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.[genome.gov] Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy.[ghr.nlm.nih.gov]

  • Williams Syndrome

    folds (vertical skin folds that cover the inner corners of the eyes Feeding difficulties in infancy, often leading to poor growth Shorter than average height Low body tone[my.clevelandclinic.org] This can become complicated by low muscle tone or hypotonia in the muscles.[understandingwilliamssyndrome.blogspot.com] These may exhibit as a flattened nasal bridge with small upturned nose, skin that covers the inner corner of the eye (called epicanthal folds) and prominent lips with an open[questia.com]

  • Chromosome 6q11-q14 Deletion Syndrome

    Folds Mouth And Oral Structures Macrostomia With Carp Mouth Thin Upper Lip Highly Arched Narrow Palate Cleft Lip/Palate Abdomen Umbilical And Inguinal Hernia And Single Umbilical[neo-genetics.com] Distinctive facies: hypertelorism, rounded face, epicanthic folds, low set ears. 5q35 deletion. Loss of NSD1 gene. Not cytogenetically detectable 95% de novo.[brainscape.com] Hypotonia Nervous System Seizures Respiratory System Tracheo-Esophageal Fistula Gastrointestinal System Intestinal Malformations Synonyms: 6Q- Syndrome 6Q Deletion Syndrome[neo-genetics.com]

  • Angelman Syndrome

    Features shown include telecanthus , bilateral epicanthic folds , wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs[en.wikipedia.org] Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood.[ncbi.nlm.nih.gov] hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, occipital depression, and blue eyes.[whonamedit.com]

  • Zellweger Syndrome

    The common clinical findings included high forehead, large fontanelle, shallow orbit ridges, micrognathia, upslanting palebral fissures, epicanthal folds, severe hypotonia[ncbi.nlm.nih.gov] 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] folds, and hypoplastic supraorbital ridges.[ela-asso.com]

  • Wolf Hirschhorn Syndrome

    The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip[ncbi.nlm.nih.gov] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] The ocular abnormalities found included hypertelorism, strabismus, refractive errors, epicanthal folds, proptosis, downslanting palpebral fissures, microphthalmos, microcornea[ncbi.nlm.nih.gov]

  • Methylmalonic Acidemia

    Physical Symptoms include the following: Lethargy, muscular hypotonia, floppiness Developmental delay Facial dysmorphism (eg, high forehead, broad nasal bridge, epicanthal[emedicine.medscape.com] 8), muscle hypotonia (n 8), recurrent vomiting (n 4), tremor (n 2), ataxia (n 2), and abnormal posture (n 1).The onset age of seizure ranged from 8 days to 11 years.[ncbi.nlm.nih.gov] These include a broad nose, a high forehead, a skin fold of the upper eyelid (epicanthal folds), and a lack of the normal groove in the skin between the nose and the upper[encyclopedia.com]

  • Musculocontractural Ehlers-Danlos Syndrome

    Epicanthic folds: skin folds between the eyes make the bridge of the nose appear wide.[dermnetnz.org] Characteristic clinical symptoms include kyphoscoliosis, muscle hypotonia, hyperextensible, thin and easy bruisable skin, atrophic scarring, hypermobility of the joints and[medical-genetics.de] folds Large anterior fontanelle (soft spot on the skull in the front, in an infant) Short stature How is Ehlers-Danlos Syndrome, Arthrochalasia Type Diagnosed?[dovemed.com]

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