Other upper limb anomalies include radial ray defects and carpal bone fusion. Upper limbs may be severely malformed.
[malacards.org]
[…] dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive
[malacards.org]
Orpha Number: 2307 Definition IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular
[malacards.org]
[…] and tarsal bone fusion, and conductive deafness Exemples Ajouter Décliner Faire correspondre Aucun exemple trouvé, pensez à en ajouter un.
[fr.glosbe.com]
[…] by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
[orpha.net]
[…] symphalangisme de Cushing + Ajouter proximal symphalangism fr maladie en autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal
[fr.glosbe.com]
[…] of the hand 0009773 Synostosis of carpal bones Fusion of wrist bones 0005048 1%-4% of people have these symptoms Carpal synostosis 0009702 Distal symphalangism of hands Fused
[rarediseases.info.nih.gov]
0006101 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Sensorineural hearing impairment 0000407 Symphalangism affecting the phalanges of the hand Fused finger bones
[rarediseases.info.nih.gov]
fusion of carpal bones, delayed bone age and congenital clubfeet.
[ncbi.nlm.nih.gov]
[…] forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones
[ncbi.nlm.nih.gov]
[…] of carpal/tarsal bones.
[ncbi.nlm.nih.gov]
In spondylocarpotarsal syndrome, spine fusions were observed. The fusions also implied the carpal and tarsal bones.
[intechopen.com]
[…] offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion
[ncbi.nlm.nih.gov]
Carpal Synostosis ► [Congenital fusion between two or more adjacent carpal bones] This section offers an overview of the various types of congenital carpal coalition, from
[rrnursingschool.biz]
There are different types of the carpal bone coalition, theses are as mentioned below Lunate-Triquetral Fusion - This is the most common fusion anomaly of the carpal bone
[ispub.com]
Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
[checkorphan.org]
[…] listed below: * Short fingers * Short toes * Curved spine * Fused wrist bones Note that Brachydactyly - scoliosis - carpal fusion symptoms usually refers to various symptoms
[checkorphan.org]
MalaCards based summary : Acrodysplasia Scoliosis, is also known as brachydactyly-scoliosis-carpal fusion syndrome.
[malacards.org]
Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common.
[abcam.com]
[…] of distal bones 242 Tarsal–Carpal coalition syndrome (TCC) 186570 Brachydactyly, multiple joint fusion of distal bones 243 Stapes ankylosis with broad thumbs and toes 184460
[nature.com]
BDB2 is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial
[abcam.com]
Namely, carpal bone fusion, syndactyly, and hypoplasia or contractures of the joints or limb muscles (more commonly the arms) are the main characteristics of this subtype.
[symptoma.com]
bone fusion, or syndactyly Type 4 Individuals having a rare combination of pigmentary abnormalities, hearing loss, and Hirschsprung disease Natural History [ edit ] does
[en.wikibooks.org]
[…] of the carpal bones, and syndactyly.
[ncbi.nlm.nih.gov]
bones fusion / synostosis - Metacarpal anomalies / Archibald's sign - Oligodactyly / ectrodactyly of fingers - Syndactyly of fingers / interdigital palm - Synostosis Frequent
[csbg.cnb.csic.es]
0001163 Absent fingernail 0001817 Finger syndactyly 0006101 Frontal bossing 0002007 Synostosis of carpal bones Fusion of wrist bones 0005048 30%-79% of people have these
[rarediseases.info.nih.gov]
[…] recessive External references: 1 OMIM reference - No MeSH references Very frequent - Absent / small fingernails / anonychia of hands - Autosomal recessive inheritance - Carpal
[csbg.cnb.csic.es]
Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical
[ncbi.nlm.nih.gov]
The main clinical findings are bilateral hip and radial head dislocations, short stature, characteristic facies, fusion of carpal bones, scoliosis, pes cavus, and cervical
[ctgt.net]
Definition A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies.
[uniprot.org]
[…] of big toe 0010103 Short distal phalanx of the thumb Short outermost bone of the thumb 0009650 Synostosis of carpal bones Fusion of wrist bones 0005048 Ulnar deviation of
[rarediseases.info.nih.gov]
0006155 Mitral valve prolapse 0001634 Partial fusion of carpals 0006207 Partial fusion of tarsals 0008097 Persistence of primary teeth Delayed loss of baby teeth Failure
[rarediseases.info.nih.gov]
Elongated long bone of hand 0010493 Posterior vertebral hypoplasia 0008451 Scoliosis Abnormal curving of the spine 0002650 Short distal phalanx of hallux Small outermost bone
[rarediseases.info.nih.gov]
[…] of carpal and tarsal bones.
[orpha.net]
[…] permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion
[orpha.net]
[…] to V and adjacent carpal/tarsal bones, partial fusion of carpal and tarsal bones, and mild medial bowing of distal femur.
[orpha.net]
II to V and corresponding carpal/tarsal bones, partial fusion of carpal and tarsal bones, mild bowing of distal part of femora, and mild vertebral anomalies.
[rarediseases.info.nih.gov]
Radiological anomalies include shortening of metacarpals and metatarsals II-III to V, synostoses between the bases of these bones or between metacarpals and metatarsals II
[orpha.net]
Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common.
[genecards.org]
Pathology They all typically display ankylosis of the PIP joints, carpal and tarsal bones.
[radiopaedia.org]
In our family, the bony fusion of the carpal bones tended to occur in a sequential order (online suppl.
[karger.com]
Pathology They all typically display ankylosis of the PIP joints, carpal and tarsal bones.
[radiopaedia.org]
Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.
[genome.jp]
In our family, the bony fusion of the carpal bones tended to occur in a sequential order (online suppl.
[karger.com]
Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common.
[abcam.com]
BDB2 is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial
[abcam.com]
[…] anomalies Carpal bones fusion/synostosis Madelung's deformity Lower limb segmental anomalies Ankle anomalies Talipes-valgus Talipes-varus/metatarsal varus Femur anomaly/absence
[readbag.com]
[…] cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray Upper limb asymmetry/hemiatrophy/hemihypertophy Upper limb transverse anomaly (excluding hand) Wrist/carpal
[readbag.com]
0008368 30%-79% of people have these symptoms Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Synostosis of carpal bones Fusion of wrist bones
[rarediseases.info.nih.gov]
Carpal Synostosis ► [Congenital fusion between two or more adjacent carpal bones] This section offers an overview of the various types of congenital carpal coalition, from
[rrnursingschool.biz]
Overview A rare syndrome characterized primarily by premature fusion of skull bones and finger, toe and hip abnormalities.
[checkorphan.org]
The most prevalent findings in persons with Holt-Oram syndrome are malformations or fusions of the carpal bones.
[chdbabies.com]
Abnormalities may be unilateral or bilateral and asymmetric and may involve the radial, carpal, and thenar bones.
[chdbabies.com]
or anomalous development of the radial, carpal, and thenar bones ◦Abnormal forearm pronation and supination ◦Triphalangeal or absent thumbs ◦Possible abnormal opposition
[chdbabies.com]
[…] of humerus Congenital abnormal fusion of metacarpal bone Congenital abnormal fusion of radius Congenital abnormal shape of carpal bone Congenital abnormal shape of humerus
[emedcodes.com]
Congenital abnormal fusion of left carpal bones Congenital abnormal fusion of right carpal bones Congenital absence of soft tissue of fingertip Congenital bilateral carpal
[icd10data.com]
[…] of metacarpal bone Congenital abnormal fusion of radius Congenital abnormal fusion of ulna Congenital abnormal shape of carpal bone Congenital abnormal shape of clavicle
[icdlist.com]
Congenital abnormal fusion of left carpal bones Congenital abnormal fusion of right carpal bones Congenital absence of soft tissue of fingertip Congenital bilateral carpal
[icd10data.com]
[…] of metacarpal bone Congenital abnormal fusion of radius Congenital abnormal fusion of ulna Congenital abnormal shape of carpal bone Congenital abnormal shape of clavicle
[icdlist.com]
[…] of left hand Camptodactyly of right hand Cleidocranial dysostosis Clinodactyly Congenital abnormal fusion of bilateral carpal bones Congenital abnormal fusion of carpal bone
[icd10data.com]
fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints.
[rarediseases.info.nih.gov]
Radiologically, it is characterized by short and deformed middle long bones, fusion of carpal bones and several metacarpal and metatarsal, and absence of proximal and middle
[cags.org.ae]
[…] 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
[malacards.org]
Carpal synostosis MedGen UID: 98468 •Concept ID: C0431863 • Congenital Abnormality Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum
[ncbi.nlm.nih.gov]
[…] coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies.
[203.71.232.25]
Tarsal coalitions MedGen UID: 539393 •Concept ID: C0265654 • Congenital Abnormality Congenital, complete or partial fusion of the TARSAL BONES of the foot.
[ncbi.nlm.nih.gov]
[…] of the hand 0009773 Synostosis of carpal bones Fusion of wrist bones 0005048 1%-4% of people have these symptoms Carpal synostosis 0009702 Distal symphalangism of hands Fused
[rarediseases.info.nih.gov]
Fusion of carpal bones may occur. The motion of the hands is remarkably good, and patients adapt well to the deformity.
[link.springer.com]
0006101 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Sensorineural hearing impairment 0000407 Symphalangism affecting the phalanges of the hand Fused finger bones
[rarediseases.info.nih.gov]
The radiographic assessment parameters consisted of bone fusion, carpal height and translation, lunate tilt, and appearance of the radiolunate joint space.
[ncbi.nlm.nih.gov]
Oculootoradial syndrome (OORS) [MIM:147750]: Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor
[genecards.org]
fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints.
[mendelian.co]
No fusion ofthe carpal bones was noted or bony fusion of the pilalanges. The thumbs were abnormally broad.
[anyflip.com]
Surgical options may include shortening of the radius, vascularized bone grafts, or fusion of the carpal bones in the wrist.
[centralcoastortho.com]
[…] or excision of carpal bones Kienbock Disease.
[learningradiology.com]
The authors have little experience with this technique, and have concerns with possibly causing circulatory compromise in an adjacent carpal bone.
[arthritisresearch.us]
[…] hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies.
[malacards.org]
OMIM : 58 Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis,
[malacards.org]
Affiliated tissues include bone and heart, and related phenotypes are hypertelorism and scoliosis UniProtKB/Swiss-Prot : 76 Steel syndrome: A syndrome characterized by dislocated
[malacards.org]
[…] of carpal and tarsal bones.
[rarediseases.info.nih.gov]
MalaCards based summary : Cardiospondylocarpofacial Syndrome, also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal
[malacards.org]
Acronym CSCF Synonyms Forney Robinson Pascoe syndrome Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones Any medical
[uniprot.org]
