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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.[jamanetwork.com] The clinical picture varies from patients presenting with mild psychomotor retardation to those with severe metabolic decompensation with vomiting, dehydration, encephalopathy[webmedcentral.com] retardation and chronic vomiting.[bjo.bmj.com]

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] Abstract The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • 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[findzebra.com] Rare diseases Search Search for a rare disease Oculocerebrofacial syndrome, Kaufman type Disease definition Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor[orpha.net] Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

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

  • Kleiner Holmes Syndrome

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

  • Baller-Gerold Syndrome

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

  • 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[mendelian.co] retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes.[selfdecode.com] PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal[genecards.org]

  • 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[genome.jp] Retardation, Epilepsy, and Craniofacial Dysmorphism; OMIM:177980 Pterygia, Mental Retardation, and Distinctive Craniofacial Features OMIM:178200 Pterygium, Antecubital OMIM[informatics.jax.org] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[checkrare.com]

  • Chudley-McCullough Syndrome

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

  • 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).[entokey.com] retardation, hypotonia, and defective wound healing with atrophic scars.[mendelian.co] retardation *Trichomegaly-retina pigmentary degeneration-dwarfism syndrome[43] - It is characterized by growth retardation, alopecia, abnormally long eyelashes and retinitis[go.galegroup.com]

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