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741 Possible Causes for Absent Thumbs

  • Holt Oram Syndrome

    Two patients had absent thumbs and first metacarpals, hypoplastic radii, and atrial and ventricular septal defects.[ncbi.nlm.nih.gov] thumbs, foreshortened arms and phocomelia.[ncbi.nlm.nih.gov] The spectrum of defects is similar in both families, displaying an ASD, hypoplastic deltoid muscles and hypoplastic or absent thumbs extending to radial defects in one case[ncbi.nlm.nih.gov]

  • Weyers Ulnar Ray - Oligodactyly Syndrome

    thumb proximally placed thumb Skeletal Skull: hypoplastic mandible Head And Neck Teeth: single central upper incisor Clinical features from OMIM: 602418 Human phenotypes[malacards.org] RADIUS (TAR) SYNDROME THUMB POLYDACTYLY TOLMIE (1987) - X-LINKED LETHAL MULTIPLE PTERYGIUM TOLMIE (1988A) - CHROMOSOME MOSAICISM; MICROCEPHALY TOLMIE (1988C) - COATS'; HAIR[iqb.es] […] short radii ulnar hypoplasia/aplasia proximal radial head dislocation Head And Neck Face: long, narrow face Head And Neck Eyes: hypotelorism Skeletal Hands: oligodactyly absent[malacards.org]

  • WT Syndrome

    Showing of 18 Percent of people who have these symptoms is not available through HPO Absent thumb Absent thumbs 0009777 Autosomal dominant inheritance 0000006 Clinodactyly[rarediseases.info.nih.gov] […] hypoplastic thumbs syndactyly absent thumbs hypoplastic thumbs ulnar deviation of 1st, 3rd fingers fifth finger camptodactyly irregular hyperpigmentation hematological anomalies[humpath.com] […] cryptorchidism radioulnar synostosis ulnar deviation radial deviation 5th finger clinodactyly neutropenia fifth finger clinodactyly short fingers ulnar defects radial defects bifid thumbs[humpath.com]

  • Agenesis of Uterus

    Her general physical examination showed absent thumbs and big toes bilaterally (Figure-1) .Rest of the physical examination was unremarkable.[jpma.org.pk] A case of a 3-year-old child with congenitally absent thumbs and big toes is reported herein; she was brought in with complaints of urinary incontinence.[jpma.org.pk] Mayer Rokitansky Kuster Hauser (MRKH) syndrome with absent thumbs and big toes Pages with reference to book, From 11 To 14 Mahira Yunus ( Department of Radiology, Singh Institute[jpma.org.pk]

  • Radial Nerve Palsy

    Absent thumb extension can be restored with a palmaris longus (median nerve inervation) to extensor pollicis longus (Radial nerve inervation).[thehandtreatmentcenter.com]

  • Congenital Malformation Syndromes due to Exogenous Causes

    thumb with short stature and immunodeficiency syndrome Absent thumb with short stature and immunodeficiency syndrome (disorder) Adams-Oliver syndrome Adams-Oliver syndrome[codelay.com] Ullrich seeAlso : Turner\'s syndrome Q87.1 SNOMed Terms: 3M syndrome 3-M syndrome 7-Dehydrocholesterol reductase deficiency Aarskog syndrome Aarskog syndrome (disorder) Absent[codelay.com]

  • RAPADILINO Syndrome

    We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of[ncbi.nlm.nih.gov] More on Genetics of RAPADILINO syndrome » Names and Terminology Other Names for This Condition absent thumbs , dislocated joints , long face with narrow palpebral fissures[familydiagnosis.com] […] agenesis (absent thumbs) radial ray defect radial aplasia *radial hypoplasia joint dislocations stiff interphalangeal joints infantile diarrhea small stature normal intelligence[humpath.com]

  • Trisomy 18

    thumb feet anomalies rocker bottom feet : a typical feature club feet prominent occiput short neck umbilical cord single umbilical artery : 80% umbilical cord cysts umbilical[radiopaedia.org] […] radius and thumb, short ulna, clenched hands, ventricular septal defect, coarctation of the aorta, patent ductus arteriosus, Meckel's diverticulum, ectopic pancreas in the[ncbi.nlm.nih.gov] […] first metacarpal and thumb and ventrally hyperflexed hands.[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    Additional skeletal features may include: ivory epiphyses 3 cone-shaped epiphyses in the proximal phalanges 3 . absent thumb Named after Helmut Paul George Seckel , American[radiopaedia.org]

  • Nager Syndrome

    (Inner ear) Speech Impairments Hands and Arms: Underdeveloped or absent thumbs Curved fingers or fingers that are fused together Possible absent bone in forearm (causes shorter[prezi.com] thumb (Nager syndrome) These children require evaluation by a craniofacial team with experienced geneticists, surgeons, dentists, speech and hearing specialists, and psychosocial[rchsd.org] thumbs Splicesomal Factor 3B4 deficiency in 60% of cases TAR syndrome (OMIM# 274000) Thrombocytopenia, Absent radius, Thumb always present RBM8A gene on chromosome 1 Miller[gynecology-obstetrics.imedpub.com]

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