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86 Possible Causes for Carpal Bones Absent

  • RAPADILINO Syndrome

    The upper limbs weresymmetrical and, in addition to the absent radii andshort, bowed ulnae, showed four digits on each side,absent carpal bones, absent middle phalanx on bothfourth[documents.tips] BGS is an autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent[abcam.com] J-shaped sella, segmental abnormalities of cervi-cal vertebrae C4, 5, and 6 with craniocervical stenosis,defects in the posterior midline of the upper sacralsegments, and absent[documents.tips]

  • Brachydactyly

    Features include: Brachydactyly, Short or absent phalanges , Extra carpal bones , Hypoplastic or absent ulna and Short metacarpal bones.[en.wikipedia.org]

  • Baller-Gerold Syndrome

    In addition to radial deficiency, absent/malformed thumbs, fused/absent carpal bones, absent metacarpals and phalanges, oligodactyly of the feet, and short, curved ulna can[link.springer.com] Definition An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent[uniprot.org] Absent long bone of hand 0010048 Autosomal recessive inheritance 0000007 Bicoronal synostosis 0011318 Bifid uvula 0000193 Carpal bone aplasia 0004231 Carpal synostosis 0009702[rarediseases.info.nih.gov]

  • Naguib Syndrome

    […] nails Aplastic nails [ more ] 0001798 Aplastic pubic bones Absent pubic bones 0008817 Autosomal recessive inheritance 0000007 Carpal bone aplasia 0004231 Congenital pseudoarthrosis[rarediseases.info.nih.gov] Aplasia/Hypoplasia involving the carpal bones Absent/small wrist bones Absent/underdeveloped wrist bones [ more ] 0006502 Aplasia/Hypoplasia involving the metacarpal bones[rarediseases.info.nih.gov] […] calf bone 0002990 Foot oligodactyly Missing toes 0001849 Hand oligodactyly 0001180 Short foot Short feet Small feet [ more ] 0001773 30%-79% of people have these symptoms[rarediseases.info.nih.gov]

  • Acromesomelic Dysplasia

    The radii/ulnae were shortened and deformed whereas carpal bones were invariably rudimentary or absent.[ncbi.nlm.nih.gov] , fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints.[orpha.net] […] inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones[orpha.net]

  • Ulnar Mammary Syndrome

    […] lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis[datagenno.com] In some cases, certain bones of the fingers (e.g., phalanges of the fourth and fifth digits), within the body of the hand (metacarpals), and/or within the wrist (carpal bones[rarediseases.org] Pyloric stenosis Hands Hypoplastic flexion creases of first and second digits Mammary Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent[datagenno.com]

  • Spondylocarpotarsal Synostosis

    The most relevant pathognomonic skeletal changes are vertebral malsegmentation and the fusion of the carpal and tarsal bones.[ingentaconnect.com] This last implication can be absent in some cases. We have investigated a case of SCT in a female of about 40–45 years of age, dated to the 2nd century ad.[ingentaconnect.com]

  • Aplasia Cutis - Myopia Syndrome

    An a utosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals[nectarmutation.org]

  • Non-Syndromic Aplasia Cutis Congenita

    An a utosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals[nectarmutation.org]

  • Brachydactyly of Fingers

    Features include: - Brachydactyly Short or absent phalanges Extra carpal bones Hypoplastic or absent ulna Short metacarpal bones Brachydactyly Type A2 Type A2 is a very rare[the-medical-dictionary.com] Features include: Brachydactyly, Short or absent phalanges , Extra carpal bones , Hypoplastic or absent ulna and Short metacarpal bones.[wikidoc.org]

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