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167 Possible Causes for Dysmorphic Ears, Sacral Dimple

  • Wiedemann-Steiner Syndrome

    dimple, hypertrichosis.[geneticdisordersuk.org] Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with[mendelian.co] The goal of any dysmorphic assessment is to correctly interpret the pattern of structural anomalies and to arrive at the diagnosis.[emedicine.medscape.com]

  • Teebi-Shaltout Syndrome

    dimple (summary by Aldemir et al., 2013).[omim.org] : low-set ears dysmorphic ears underdeveloped helix small earlobes Head And Neck Nose: wide nasal bridge broad nasal tip underdeveloped ala nasi Growth Height: short stature[malacards.org] (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum[mendelian.co]

  • Ring Chromosome 13

    dimples – 50% Deletions are measured in units, kilobases or 1000 base pairs, and megabases or 1 million base pairs.[pmsf.org.uk] Patient XIII . 24 year-old male, hypotonia, elongated and concave face, prominent nose, large and prominent dysmorphic ears, two café-au-lait spots, chest asymmetry, dorso-lombar[biomedsearch.com] […] teeth grinding or tongue thrusting Decreased perception of pain Aggressiveness such as hitting, biting or hair pulling Seizures – 25% Anachroid cysts – 15% Sleep disturbance Sacral[pmsf.org.uk]

  • Ring Chromosome 7

    dimples * * * * * * * * * * * * * 2 Spaced nipples * * * * * * * * * * * * * * Clinodactyly * * * * * * * * * * * * * * 2 Cardiovascular abnormality * * * * * * * * * 2 2[slideshare.net] A comparison of clinical features in the two groups of patients showed several common features such as growth and mental retardation, and facial dysmorphism, including, ear[ncbi.nlm.nih.gov] (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis , epicanthic folds, hyper/hypotelorism).[rarediseases.info.nih.gov]

  • Coffin-Siris Syndrome

    dimple Spinal dimple 0000960 Severe expressive language delay 0006863 Short distal phalanx of the 5th finger Short outermost little finger bone Short outermost pinkie finger[rarediseases.info.nih.gov] Phenotypically, she demonstrated acanthosis nigricans on her neck, armpits and inguinal areas, a wide round face, long sparse and loose hair, hypertrichosis, dysmorphic ears[nature.com] The goal of any dysmorphic assessment is to correctly interpret the pattern of structural anomalies and to arrive at the diagnosis.[emedicine.medscape.com]

  • Ring Chromosome 15

    dimples – 50% Deletions are measured in units, kilobases or 1000 base pairs, and megabases or 1 million base pairs.[pmsf.org.uk] Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet.[ncbi.nlm.nih.gov] Other clinical findings were pre- and postnatal growth retardation, micro- cephaly, dysmorphism of ears, fingers and feet.[docslide.com.br]

  • Trisomy 9

    dimple.[ncbi.nlm.nih.gov] Dysmorphic features included low-set, posteriorly rotated ears with squared, simple helices, midface hypoplasia, a broad nasal root with wide nasal alae, small mouth, micrognathia[ncbi.nlm.nih.gov] […] features of micrognathia, posteriorly rotated lowset ears, and single palmar crease.[nature.com]

  • Setleis Syndrome

    Sacral dimple associated with underlying meningomyelocele. Photo 11. Sacral dimples. Photo 12. Topical corticosteroid atrophy (Lidex). Photo 13.[medical-photographs.com] They also had absent lower eyelashes, narrow snouts, protruding chins, short anterior-posterior head diameters, and low-set dysmorphic ears.[omim.org] […] nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.[genecards.org]

  • Prieto Syndrome

    Symptoms - Prieto X-linked mental retardation syndrome The list of signs and symptoms mentioned in various sources for Mental retardation X-linked dysmorphism includes the[checkorphan.org] Mental retardation * Abnormal tooth growth * Skin dimple in lower back * Clinodactyly * Partially dislocated knee * Subcortical cerebral atrophy * Abnormal walk * Low set ears[checkorphan.org] […] lobe * Undescended testes Note that Mental retardation X-linked dysmorphism symptoms usually refers to various symptoms known to a patient, but the phrase Mental retardation[checkorphan.org]

  • LEOPARD Syndrome

    NEWBORN – online-only RETINOBLASTOMA RHABDOMYOSARCOMA RHIZOMELIC CHONDRODYSPLASIA PUNCTATA RICKETS ATROPHIC RICKETS ROSEOLA INFANTUM (EXANTHEM SUBITUM, SIXTH DISEASE) RUBELA S SACRAL[euro-libris.ro] Characteristic facial features can be mild or severe, and consist of hypertelorism, downslanting palpebral fissures, ptosis, and dysmorphic ears.[ncbi.nlm.nih.gov] Dysmorphic ears Low-set ears Thick lips Drooping or falling of the upper eyelid (palpebral ptosis) Wrinkled skin Anomalies of Cardiovascular system The heart related problems[syndromespedia.com]

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