Short phalanx of finger

Symptom Information:

Symptom ID: HPO:0009803
Synonyms:
Hypoplastic phalanges [HPO:0009803]
Hypoplastic phalanges of hands [HPO:0009803]
Hypoplastic/small phalanges of the hand [HPO:0009803]
Phalangeal hypoplasia [HPO:0009803]
Rudimentary phalanges [HPO:0009803]
Short fingers [HPO:0009803]
Short phalanges [HPO:0009803]
Shortened phalanges [HPO:0009803]
Short finger [Orphanet:20060]
Brachydactyly of hand (disorder) [Orphanet:20060]
Short finger (finding) [Orphanet:20060]
Brachydactyly of hand [Orphanet:20060]
Hypoplastic phalanges [OMIM:Hypoplastic phalanges]
Hypoplastic phalanges of hands [OMIM:Hypoplastic phalanges of hands]
Phalangeal hypoplasia [OMIM:Phalangeal hypoplasia]
Short fingers [OMIM:Short fingers]
Short phalanges [OMIM:Short phalanges]
Shortened phalanges [OMIM:Shortened phalanges]
Short hand/brachydactyly [Orphanet:20060]
Hypoplastic phalanges (1 patient) [OMIM:Hypoplastic phalanges (1 patient)]
Hypoplastic phalanges (1st) [OMIM:Hypoplastic phalanges (1st)]
Hypoplastic phalanges (especially middle and proximal) [OMIM:Hypoplastic phalanges (especially middle and proximal)]
Hypoplastic phalanges (fingers 2-5) [OMIM:Hypoplastic phalanges (fingers 2-5)]
Rudimentary phalanges (distal phalanges present) [OMIM:Rudimentary phalanges (distal phalanges present)]
Short phalanges (especially distal phalanges) [OMIM:Short phalanges (especially distal phalanges)]
Short phalanges (middle phalanges) [OMIM:Short phalanges (middle phalanges)]
Short phalanges (rare) [OMIM:Short phalanges (rare)]
Phalangeal hypoplasia [MedDRA:10049212]
Quality:
Cross references:
HPO:0009381 "Short finger" [Orphanet:20060]
HPO:0011927 "Short digit" [Orphanet:20060]
Orphanet:20060 "Short hand/brachydactyly" [Orphanet:20060]
OMIM: "Hypoplastic phalanges" [OMIM:Hypoplastic phalanges]
OMIM: "Hypoplastic phalanges of hands" [OMIM:Hypoplastic phalanges of hands]
OMIM: "Phalangeal hypoplasia" [OMIM:Phalangeal hypoplasia]
OMIM: "Short fingers" [OMIM:Short fingers]
OMIM: "Short phalanges" [OMIM:Short phalanges]
OMIM: "Shortened phalanges" [OMIM:Shortened phalanges]
OMIM: "Hypoplastic phalanges (1 patient)" [OMIM:Hypoplastic phalanges (1 patient)]
OMIM: "Hypoplastic phalanges (1st)" [OMIM:Hypoplastic phalanges (1st)]
OMIM: "Hypoplastic phalanges (especially middle and proximal)" [OMIM:Hypoplastic phalanges (especially middle and proximal)]
OMIM: "Hypoplastic phalanges (fingers 2-5)" [OMIM:Hypoplastic phalanges (fingers 2-5)]
OMIM: "Rudimentary phalanges (distal phalanges present)" [OMIM:Rudimentary phalanges (distal phalanges present)]
OMIM: "Short phalanges (especially distal phalanges)" [OMIM:Short phalanges (especially distal phalanges)]
OMIM: "Short phalanges (middle phalanges)" [OMIM:Short phalanges (middle phalanges)]
OMIM: "Short phalanges (rare)" [OMIM:Short phalanges (rare)]
UMLS:C0588368 "Brachydactyly of hand" [Orphanet:20060]
UMLS:C0239594 "Short finger" [Orphanet:20060]
Is a (Direct Parents):
Orphanet Abnormality of the hand
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
Orphanet Short palm
HPO         Aplasia/Hypoplasia of the phalanges of the hand
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                                  Short phalanx of finger(HPO:0009803)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                               Short phalanx of finger(HPO:0009803)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381)
          Short phalanx of finger(HPO:0009803)
Database Frequency: 79 / 7739
Resource:

All diseases associated with this symptom:

16p13.3 microduplication syndrome (Orphanet:96078)
1p36 deletion syndrome (Orphanet:1606)
2q37 microdeletion syndrome (Orphanet:1001)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
AREDYLD syndrome (Orphanet:1133)
ARTERIOSCLEROSIS, SEVERE JUVENILE (OMIM:208060)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Acromicric dysplasia (Orphanet:969)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Bartsocas-Papas syndrome (Orphanet:1234)
Brachydactyly - arterial hypertension (Orphanet:1276)
Brachydactyly type A6 (Orphanet:93382)
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES (OMIM:609441)
CHST3-related skeletal dysplasia (Orphanet:263463)
CODAS syndrome (Orphanet:1458)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Craniosynostosis and dental anomalies (Orphanet:284149)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES (OMIM:127200)
Dihydropyrimidinuria (Orphanet:38874)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Fibular aplasia - ectrodactyly (Orphanet:1118)
Focal dermal hypoplasia (Orphanet:2092)
Frank-Ter Haar syndrome (Orphanet:137834)
Genitopatellar syndrome (Orphanet:85201)
Goldblatt syndrome (Orphanet:166272)
Gordon syndrome (Orphanet:376)
Greenberg dysplasia (Orphanet:1426)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Jeune syndrome (Orphanet:474)
Keipert syndrome (Orphanet:2662)
Leri pleonosteosis (Orphanet:2900)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Moebius syndrome (Orphanet:570)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Multiple epiphyseal dysplasia type 1 (Orphanet:93308)
Multiple epiphyseal dysplasia, Beighton type (Orphanet:166011)
Nance-Horan syndrome (Orphanet:627)
Oculoosteocutaneous syndrome (Orphanet:2713)
Osteoglophonic dwarfism (Orphanet:2645)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Peripheral dysostosis (Orphanet:1795)
Rabson-Mendenhall syndrome (Orphanet:769)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Ruvalcaba syndrome (Orphanet:3121)
SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH (OMIM:606895)
Saldino-Mainzer syndrome (Orphanet:140969)
Short-rib thoracic dysplasia 1 with or without polydactyly (OMIM:208500)
Smith-McCort dysplasia (Orphanet:178355)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stüve-Wiedemann syndrome (Orphanet:3206)
Subaortic stenosis - short stature (Orphanet:3191)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Tetrasomy 12p (Orphanet:884)
Thiemann disease, familial form (Orphanet:3314)
Thrombocytopenia - absent radius (Orphanet:3320)
WT limb-blood syndrome (Orphanet:3466)
Wiedemann-Steiner syndrome (Orphanet:319182)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349)