Short distal phalanx of finger

Symptom Information:

Symptom ID: HPO:0009882
Synonyms:
Brachytelophalangy [HPO:0009882]
Distal phalangeal hypoplasia [HPO:0009882]
Hypoplasia of the distal phalanges [HPO:0009882]
Hypoplasia of the distal phalanges of the hand [HPO:0009882]
Hypoplasic terminal phalanges [HPO:0009882]
Hypoplastic distal phalanges [HPO:0009882]
Hypoplastic terminal phalanges [HPO:0009882]
Short distal phalanges [HPO:0009882]
Terminal phalangeal hypoplasia of hand [HPO:0009882]
Distal phalangeal hypoplasia [OMIM:Distal phalangeal hypoplasia]
Hypoplasia of the distal phalanges [OMIM:Hypoplasia of the distal phalanges]
Hypoplastic distal phalanges [OMIM:Hypoplastic distal phalanges]
Hypoplastic terminal phalanges [OMIM:Hypoplastic terminal phalanges]
Short distal phalanges [OMIM:Short distal phalanges]
Terminal phalangeal hypoplasia of hand [OMIM:Terminal phalangeal hypoplasia of hand]
Terminal/third phalangeal bone of fingers hypoplasia [Orphanet:20400]
Hypoplastic distal phalanges (fingers II-V, mild phenotype) [OMIM:Hypoplastic distal phalanges (fingers II-V, mild phenotype)]
Hypoplastic distal phalanx [OMIM:Hypoplastic distal phalanx]
Hypoplastic terminal phalanges (brachytelephalangy) [OMIM:Hypoplastic terminal phalanges (brachytelephalangy)]
Short distal phalanges (fingers 2-5) [OMIM:Short distal phalanges (fingers 2-5)]
Short distal phalanges (toes 2-4) [OMIM:Short distal phalanges (toes 2-4)]
Short distal phalanx (5th finger) [OMIM:Short distal phalanx (5th finger)]
Quality:
Cross references:
Orphanet:20400 "Terminal/third phalangeal bone of fingers hypoplasia" [Orphanet:20400]
OMIM: "Distal phalangeal hypoplasia" [OMIM:Distal phalangeal hypoplasia]
OMIM: "Hypoplasia of the distal phalanges" [OMIM:Hypoplasia of the distal phalanges]
OMIM: "Hypoplastic distal phalanges" [OMIM:Hypoplastic distal phalanges]
OMIM: "Hypoplastic terminal phalanges" [OMIM:Hypoplastic terminal phalanges]
OMIM: "Short distal phalanges" [OMIM:Short distal phalanges]
OMIM: "Terminal phalangeal hypoplasia of hand" [OMIM:Terminal phalangeal hypoplasia of hand]
OMIM: "Hypoplastic distal phalanges (fingers II-V, mild phenotype)" [OMIM:Hypoplastic distal phalanges (fingers II-V, mild phenotype)]
OMIM: "Hypoplastic distal phalanx" [OMIM:Hypoplastic distal phalanx]
OMIM: "Hypoplastic terminal phalanges (brachytelephalangy)" [OMIM:Hypoplastic terminal phalanges (brachytelephalangy)]
OMIM: "Short distal phalanges (fingers 2-5)" [OMIM:Short distal phalanges (fingers 2-5)]
OMIM: "Short distal phalanges (toes 2-4)" [OMIM:Short distal phalanges (toes 2-4)]
OMIM: "Short distal phalanx (5th finger)" [OMIM:Short distal phalanx (5th finger)]
Is a (Direct Parents):
HPO         Short phalanx of finger
HPO         Aplasia/Hypoplasia of the distal phalanges of the hand
Orphanet Abnormality of the hand
HPO         Short finger
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)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                      Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Short finger(HPO:0009381)
                               Short distal phalanx of finger(HPO:0009882)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Short finger(HPO:0009381)
                               Short distal phalanx of finger(HPO:0009882)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Abnormality of the distal phalanx of finger(HPO:0009832)
                               Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                  Short distal phalanx of finger(HPO:0009882)
                            Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                               Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                  Short distal phalanx of finger(HPO:0009882)
                               Short phalanx of finger(HPO:0009803)
                                  Short distal phalanx of finger(HPO:0009882)
                      Short digit(HPO:0011927)
                         Short finger(HPO:0009381)
                            Short distal phalanx of finger(HPO:0009882)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short distal phalanx of finger(HPO:0009882)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Abnormality of the distal phalanx of finger(HPO:0009832)
                                  Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                     Short distal phalanx of finger(HPO:0009882)
                               Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                                  Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                     Short distal phalanx of finger(HPO:0009882)
                                  Short phalanx of finger(HPO:0009803)
                                     Short distal phalanx of finger(HPO:0009882)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short distal phalanx of finger(HPO:0009882)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short distal phalanx of finger(HPO:0009882)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short distal phalanx of finger(HPO:0009882)
MedDRA:
Database Frequency: 125 / 7739
Resource:

All diseases associated with this symptom:

ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrocraniofacial dysostosis (Orphanet:949)
Acroosteolysis, dominant type (Orphanet:955)
Acropectorovertebral dysplasia (Orphanet:957)
Adams-Oliver syndrome (Orphanet:974)
Alagille syndrome (Orphanet:52)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Albers-Schönberg osteopetrosis (Orphanet:53)
Aphalangy - syndactyly - microcephaly (Orphanet:1113)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
BRACHYDACTYLY, TYPE A1 (OMIM:112500)
BRACHYDACTYLY, TYPE A1, B (OMIM:607004)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Brachydactyly - preaxial hallux varus (Orphanet:1278)
Brachydactyly type A1 (Orphanet:93388)
Brachydactyly type A2 (Orphanet:93396)
Brachydactyly type B (Orphanet:93383)
Brachydactyly type B2 (Orphanet:140908)
Brachydactyly type E (Orphanet:93387)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
Brachytelephalangy - dysmorphism - Kallmann syndrome (Orphanet:1295)
Branchiogenic deafness syndrome (Orphanet:50815)
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
CHST3-related skeletal dysplasia (Orphanet:263463)
CURVED NAIL OF FOURTH TOE (OMIM:219070)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cleft palate - large ears - small head (Orphanet:2013)
Cocaine embryofetopathy (Orphanet:1911)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Coloboma of macula - brachydactyly type B (Orphanet:1471)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 4 (OMIM:614378)
Cryptomicrotia - brachydactyly - excess fingertip arch (Orphanet:1547)
Deafness - onychodystrophy (Orphanet:3231)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Ellis Van Creveld syndrome (Orphanet:289)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Embryonary disorganization syndrome (Orphanet:1664)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Familial digital arthropathy-brachydactyly (Orphanet:85169)
Fryns syndrome (Orphanet:2059)
Fuhrmann syndrome (Orphanet:2854)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Guttmacher syndrome (Orphanet:2957)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS (OMIM:241519)
Hand-foot-genital syndrome (Orphanet:2438)
Hereditary combined deficiency of vitamin K-dependent clotting factors (Orphanet:98434)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypoglossia - hypodactyly (Orphanet:989)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, Wolff type (Orphanet:3080)
Keipert syndrome (Orphanet:2662)
Keutel syndrome (Orphanet:85202)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Marshall-Smith syndrome (Orphanet:561)
Maxillo-nasal dysplasia (Orphanet:1248)
Metaphyseal chondrodysplasia - retinitis pigmentosa (Orphanet:166035)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly-albinism-digital anomalies (Orphanet:2513)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Nephrosis - deafness - urinary tract - digital malformations (Orphanet:2669)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Odonto-tricho-ungual-digito-palmar syndrome (Orphanet:69082)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteoporosis - macrocephaly - blindness - joint hyperlaxity (Orphanet:2787)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progeroid syndrome, Petty type (Orphanet:2963)
Pseudoachondroplasia (Orphanet:750)
Pycnodysostosis (Orphanet:763)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Ring chromosome 6 (Orphanet:1448)
SANTOS SYNDROME (OMIM:613005)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH (OMIM:606895)
Schinzel-Giedion syndrome (Orphanet:798)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Spondylometaphyseal dysplasia, 'corner fracture' type (Orphanet:93315)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stapes ankylosis with broad thumbs and toes (Orphanet:140917)
Stern-Lubinsky-Durrie syndrome (Orphanet:3194)
Syndactyly type 5 (Orphanet:93406)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Ulnar-mammary syndrome (Orphanet:3138)
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence (Orphanet:3201)
X-linked hypohidrotic ectodermal dysplasia (Orphanet:181)
X-linked spastic paraplegia type 16 (Orphanet:100997)
Yunis-Varon syndrome (Orphanet:3472)
Zechi-Ceide syndrome (Orphanet:217017)
Zimmermann-Laband syndrome (Orphanet:3473)