Trăsături

Trăsături asociate cu HOXD13

homeobox D13

Human Phenotype Ontology asociază 103 trăsături cu HOXD13, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Absent distal interphalangeal creases	Întotdeauna
Absent middle bone of the 3rd toe	Întotdeauna
Finger bends toward pinky	Foarte des (80–99%)
Fused 4th-5th long bones of hand	Foarte des (80–99%)
Fused long bones of hand	Foarte des (80–99%)
Fused toes	Foarte des (80–99%)
Fusion of the long bones of the feet	Foarte des (80–99%)
Short 5th long bone of foot	Foarte des (80–99%)
Short middle bone of index finger	Foarte des (80–99%)
Short middle bone of the little finger	Foarte des (80–99%)
Short outermost finger bone	Foarte des (80–99%)
Shortened 5th long bone of hand	Foarte des (80–99%)
Shortened long bone of hand	Foarte des (80–99%)
Type E brachydactyly	Foarte des (80–99%)
Ulnar deviation of the 2nd finger	Foarte des (80–99%)
Ulnar deviation of the 3rd finger	Foarte des (80–99%)
Ulnar deviation of the 4th finger	Foarte des (80–99%)
Ulnar deviation of the 5th finger	Foarte des (80–99%)
Webbed skin of 2nd-3rd toes	Foarte des (80–99%)
3-4 finger cutaneous syndactyly	Des (30–79%)
Aplasia/Hypoplasia of the radius	Des (30–79%)
Broad outermost bone of the thumb	Des (30–79%)
Bunion	Des (30–79%)
Fused finger bones	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Shortened 4th long bone of hand	Des (30–79%)
Webbed 2nd and 3rd toes	Des (30–79%)
Webbed 3rd-4th fingers	Des (30–79%)
Webbed 4th-5th toes	Des (30–79%)
Absent/small outermost big toe bone	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Extra little finger	Uneori (5–29%)
Extra thumb	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Preaxial foot polydactyly	Uneori (5–29%)
Short long bone of foot	Uneori (5–29%)
Unequal size of arms	Uneori (5–29%)
Webbed 3rd-4th toes	Uneori (5–29%)
6 long bones of hand	Neînregistrat
Broad big toe	Neînregistrat
Broad outermost bone of big toe	Neînregistrat
Contracture of the proximal interphalangeal joint of the 5th finger	Neînregistrat
Enlarged innermost hinge joint	Neînregistrat
Extra toe attached near the little toe	Neînregistrat
Fused wrist bones	Neînregistrat
Joint contracture of the hand	Neînregistrat
Mesoaxial hand polydactyly	Neînregistrat
Oligodactyly	Neînregistrat
Short digit	Neînregistrat
Short finger bones	Neînregistrat
Short fingers or toes	Neînregistrat
Type D brachydactyly	Neînregistrat
Underdeveloped 2nd-5th middle toe bones	Neînregistrat
Webbed fingers or toes	Neînregistrat
Y-shaped long bone of hand	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal kidney location	Des (30–79%)
Absent kidney	Des (30–79%)
Abnormal morphology of female internal genitalia	Uneori (5–29%)
Ambiguous external genitalia	Uneori (5–29%)
Cleft of scrotum	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Multicystic kidney dysplasia	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Urethra issue	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Congenital diaphragmatic hernia	Des (30–79%)
Double-Jointed	Des (30–79%)
Vertebral segmentation defect	Des (30–79%)
Abnormal intervertebral disk morphology	Uneori (5–29%)
Abnormal sacrum morphology	Uneori (5–29%)
Abnormality of the ribs	Uneori (5–29%)
Permanent flexion of the finger or toe	Neînregistrat
Short collarbone	Neînregistrat
Straight collarbone	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Uneori (5–29%)
Brain tissue sticks out through back of skull	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Non-midline cleft of the upper lip	Uneori (5–29%)
Wide fontanelles	Uneori (5–29%)
Multiple impacted teeth	Neînregistrat
Round face	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absent anus	Foarte des (80–99%)
Abnormal connection between trachea and esophagus	Des (30–79%)
Abnormality of the gallbladder	Uneori (5–29%)
Abnormality of the pancreas	Uneori (5–29%)
Anorectal anomaly	Uneori (5–29%)
Omphalocele	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Foarte des (80–99%)
Premature birth	Foarte des (80–99%)
Only one artery in umbilical cord instead of two	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal cardiovascular system morphology	Des (30–79%)
Collection of dilated blood vessels that forms mass	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Absent/small lungs	Foarte des (80–99%)
Narrowing of windpipe	Foarte des (80–99%)
Softening of voice box tissue	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)
Moderate short stature	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Anencephaly	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu HOXD13 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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