Short humerus

Symptom Information:

Symptom ID: HPO:0005792
Synonyms:
Humeral hypoplasia [HPO:0005792]
Humeral shortening [HPO:0005792]
Hypoplastic humerus [HPO:0005792]
Short humeri [HPO:0005792]
Short upper arms [HPO:0005792]
Humerus hypoplasia [Orphanet:19180]
Congenital hypoplasia of humerus [HPO:0005792]
Congenital hypoplasia of humerus (disorder) [Orphanet:19180]
Congenital hypoplasia of humerus [Orphanet:19180]
Humeral hypoplasia [OMIM:Humeral hypoplasia]
Hypoplastic humerus [OMIM:Hypoplastic humerus]
Short humeri [OMIM:Short humeri]
Short humerus [OMIM:Short humerus]
Short upper arms [OMIM:Short upper arms]
Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus [Orphanet:19180]
Quality:
Cross references:
HPO:0006507 "Aplasia/Hypoplasia of the humerus" [Orphanet:19180]
Orphanet:19180 "Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus" [Orphanet:19180]
OMIM: "Humeral hypoplasia" [OMIM:Humeral hypoplasia]
OMIM: "Hypoplastic humerus" [OMIM:Hypoplastic humerus]
OMIM: "Short humeri" [OMIM:Short humeri]
OMIM: "Short humerus" [OMIM:Short humerus]
OMIM: "Short upper arms" [OMIM:Short upper arms]
UMLS:C0685375 "Congenital hypoplasia of humerus" [Orphanet:19180]
Is a (Direct Parents):
Orphanet Upper limb segmental anomalies
HPO         Aplasia/hypoplasia of the humerus
Orphanet Abnormality of the humerus
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 upper arm(HPO:0001454)
                         Abnormality of the humerus(HPO:0003063)
                            Aplasia/hypoplasia of the humerus(HPO:0006507)
                               Short humerus(HPO:0005792)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia of the humerus(HPO:0006507)
                            Short humerus(HPO:0005792)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia of the humerus(HPO:0006507)
                            Short humerus(HPO:0005792)
             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 of the humerus(HPO:0006507)
                         Short humerus(HPO:0005792)
MedDRA:
Database Frequency: 34 / 7739
Resource:

All diseases associated with this symptom:

Acheiropodia (Orphanet:931)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Atelosteogenesis type I (Orphanet:1190)
Autosomal recessive omodysplasia (Orphanet:93329)
Baller-Gerold syndrome (Orphanet:1225)
CODAS syndrome (Orphanet:1458)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
Femoral-facial syndrome (Orphanet:1988)
Humerus trochlea aplasia (Orphanet:3383)
Kyphomelic dysplasia (Orphanet:1801)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Multiple synostoses syndrome (Orphanet:3237)
Occipital horn syndrome (Orphanet:198)
Okihiro syndrome (Orphanet:93293)
Omodysplasia (Orphanet:2733)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA (OMIM:610319)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic chondrodysplasia punctata type 3 (Orphanet:309803)
Rhizomelic dysplasia, Patterson-Lowry type (Orphanet:2831)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
Ulnar-mammary syndrome (Orphanet:3138)
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)