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34 Possible Causes for Almond-Shaped Eyes, Dysmorphic Face, Single Transverse Palmar Crease

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue[cdc.gov] Individuals with DS may have certain physical attributes including: Almond-shaped eyes with striking Brushfield spots (small, white, crescent-shaped markings) on the irises[babycenter.com]

  • Opitz-Kaveggia Syndrome

    Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] […] and neuropathy Multiple congenital anomalies (MCA) Congenital contractures of the limbs and face (CLIFAHDD) Multiple congenital anomalies (MCA) Congenital disorder of glycosylation[genomediagnosticsnijmegen.nl]

  • Intellectual Disability - Spasticity - Ectrodactyly Syndrome

    transverse palmar creases 0007598 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Finger syndactyly 0006101 Hyperreflexia Increased reflexes[rarediseases.info.nih.gov] Prader willi: short stature, small hands, stubbornness, narrow forhead, almond-shaped eyes, triangular mouth, skin picking, hyperphagia ( appetite) Features: LONG PALPEBRAL[brainscape.com] transverse palmar creases 59 Frequent (79-30%) 9 split hand 32 HP:0001171 10 abnormality of the upper limb 59 Frequent (79-30%) MalaCards organs/tissues related to Limb Defects[malacards.org]

  • Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

    transverse palmar crease Ectopia pupillae Cleft lip Retinal coloboma Anteverted nares Short palpebral fissure Sparse hair Telecanthus Hyperkeratosis Brachycephaly Alopecia[mendelian.co] , bushy eyebrows/XLD/SLC9A6/#300243 CK SYNDROME/Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes/XLR/NSDHL/#300831 COCKAYNE SYNDROME/Pigmentary[eyewiki.org] Common clinical findings include mild to moderate mental retardation, autism, gait ataxia and only slightly dysmorphic facial features including microcephaly, a narrow face[radiologykey.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    transverse palmar crease Brachycephaly Coma Respiratory insufficiency Anteverted nares Craniosynostosis Wide nasal bridge Hypertension Epicanthus Visual impairment Anal atresia[mendelian.co] Upon examination, he presented with short stature, neck webbing, and craniofacial dysmorphic features comprising full cheeks, prominent widened nasal bridge, almond-shaped[bmcmedgenet.biomedcentral.com] transverse palmar crease -Complete atrioventricular canal VSD ASD -Duodenal atresai, hirschsprung disease -earlyonset AD -Hypothyroidism, DMI -Atlantoaxial instability CAH[quizlet.com]

  • Autosomal Dominant Mental Retardation 21

    transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] , long face, large beaked nose, thick lower lip, micrognathia).[cordis.europa.eu] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com]

  • Syndromic Microphthalmia 11

    transverse palmar crease 0000954 Small scrotum Underdeveloped scrotum 0030276 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Uplifted earlobe Lobe, uplifted Upturned[rarediseases.info.nih.gov] , bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary[eyewiki.aao.org] It can include: long narrow face with facial dysmorphisms, congenital cataract, blepharophimosis, dental anomalies, syndactyly, cardiopathy, cleft palate, renal and genital[bredagenetics.com]

  • X-Linked Syndromic Mental Retardation 11

    transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] Facial phenotype is characterized by a broad face, flat midface, synophrys and/or prominent eyebrows, almond shaped eyes, low nasal bridge, prominent columella of the nose[ojrd.biomedcentral.com] Subtle dysmorphic features including high arched palate, long narrow face, and prominent ears were also observed in some of the males ( Table 1 ).[molvis.org]

  • Enamel Hypoplasia Cataracts and Aqueductal Stenosis

    transverse palmar creases Multicystic kidney dysplasia Retinal detachment Abnormality of the kidney Sensory impairment Neurological speech impairment Hyperhidrosis Visual[mendelian.co] They also have unique pixie-like facial features--almond shaped eyes, oval ears, full lips, small chins, narrow faces, and broad mouths.[agentorangequiltoftears.com] Cataracts, Hearing Loss, and Neurodegeneration 1 Congenital Central Hypoventilation syndrome 11 Congenital Contractural Arachnodactyly 6 Congenital Contractures of the Limbs and Face[preventiongenetics.com]

  • Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

    transverse palmar crease • Excess nuchal skin • Single transverse palmar crease • Mental retardation • Alzheimer disease • Hypotonia, poor Moro reflex • Hypothyroidism •[slideshare.net] face.[biomedsearch.com] Short and broad hands, hypoplasia of the midphalanx of the fifth finger ( Figure ), clinodactyly of the fifth finger, single transverse palmar or simian crease, distal palmar[consultant360.com]

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