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10 Possible Causes for Overfolded Superior Helix, Psychomotor Retardation

  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[] The clinical picture varies from patients presenting with mild psychomotor retardation to those with severe metabolic decompensation with vomiting, dehydration, encephalopathy[] retardation and chronic vomiting.[]

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[] Abstract The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal[] Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by psychomotor retardation[]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[] Rare diseases Search Search for a rare disease Oculocerebrofacial syndrome, Kaufman type Disease definition Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor[] Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris[]

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] As patients pass into adolescence, the syndrome is characterized by a coarse and flat face, macroglossia, prognathism, inverted lower lip and psychomotor retardation with[] PKS was characterized by profound psychomotor retardation, inability to sit or speak, seizures, and joint contractures.[]

  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[] […] dysequlibrium syndrome Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz[] Acute encephalopathy, seizures, psychomotor retardation, hypotonia, spasticity, myopathy, and dysarthria may also be seen.[]

  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] , and psychomotor retardation [Seto et al.,2001].[] Systemic Features: Infants with type I disease are usually hypotonic from birth but develop spasticity, psychomotor retardation, and hyperreflexia within 6 months.[]

  • Heimler Syndrome

    […] of the superior helices Hypoplastic superior helix Speech articulation difficulties Question mark ear Failure to thrive Thin upper lip vermilion Muscular hypotonia Deeply[] retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes.[] PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal[]

  • Isolated Autosomal Dominant Preauricular Tag 1

    Clinical Synopsis: INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Microcephaly; [Ears]; Overfolding of superior helix; Large ears; Preauricular tags; Preauricular[] Retardation, Epilepsy, and Craniofacial Dysmorphism; OMIM:177980 Pterygia, Mental Retardation, and Distinctive Craniofacial Features OMIM:178200 Pterygium, Antecubital OMIM[] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[]

  • Chudley-McCullough Syndrome

    helix Narrow palpebral fissure Aortic aneurysm Aortic regurgitation Interrupted aortic arch Abnormality of earlobe Sandal gap Cardiomyopathy Coarse facial features Congenital[] retardation, epilepsy, and craniofacial dysmorphism (PMRED) A #266200 Pyruvate kinase deficiency of red cells A #266510 Refsum Disease, Infantile Form A Renal Hypoplasia[] retardation short stature and psychomotor Epiphyseal dysplasia multiple with retardation A syndrome of abnormal Chronic hiccup Fructose intolerance early-onset diabetes mellitus[]

  • Tricho-Oculo-Dermo-Vertebral Syndrome

    The ears are small with overfolding of the superior part of the helix. The EACs are stenotic, especially at the isthmus (bony-cartilaginous junction).[] retardation, hypotonia, and defective wound healing with atrophic scars.[] retardation *Trichomegaly-retina pigmentary degeneration-dwarfism syndrome[43] - It is characterized by growth retardation, alopecia, abnormally long eyelashes and retinitis[]

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