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60 Possible Causes for Carpal Bones Absent

  • 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[doi.org] 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] carpals, metacarpals and phalanges.[uniprot.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]

  • 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]

  • 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]

  • Grebe Syndrome

    […] joint, rudimentary or absent carpal and metacarpal bones with polydactyly and absent proximal and middle but present distal phalanges.[cags.org.ae] , fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints.[malacards.org] […] bones were absent.[ncbi.nlm.nih.gov]

  • Holt Oram Syndrome

    […] radius on left side with absent carpal bones and absent first metacarpal bone and phalanges (thumb), right side showing absent carpal bones and triphalangeal thumb [Figure[heartviews.org] They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies.[ijms.sums.ac.ir] Radial ray upper limb anomalies include carpal bone malformation(s) as well as triphalangeal or absent thumb(s), phocomelia, hypoplasia or aplasia involving the radius often[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]

  • Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome

    Synostosis of carpal bones Absent thumb Ectropion Hypoplasia of the ulna Elbow dislocation Radioulnar synostosis Laryngomalacia Deep philtrum Hypoplasia of the radius Abnormal[mendelian.co] Small face Delusions Bronchitis Aseptic necrosis Thickened calvaria Bowel incontinence Corneal opacity Hepatosplenomegaly High, narrow palate Abnormality of the metacarpal bones[mendelian.co]

  • 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]

  • Brachydactyly Type B1

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

Further symptoms