Short Humerus: Causes & Reasons

Possible Causes for Short Humerus

Rhizomelic Chondrodysplasia Punctata Type 2

The baby had short humerus bones with stippled epiphyses, consistent with the disease. [file.scirp.org]

humerus Abnormality of the eye Cataract Abnormality of the musculoskeletal system Abnormal pelvic girdle bone morphology Calcific stippling Flexion contracture Generalized [ncbi.nlm.nih.gov]

humerus ; Stippled calcification proximal humeral epiphyses ; Wide nasal bridge Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT ) Mouse Orthologs Gnpat [mousephenotype.org]

Facioauriculoradial Dysplasia

2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs [mousephenotype.org]

humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia [malacards.org]

[…] tibia Radial bowing Short 4th metacarpal Abnormality of the humerus Abnormality of the carpal bones Abnormality of the skeletal system Multiple exostoses Mesomelic short [mendelian.co]

Cerebro-Costo-Mandibular Syndrome

humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Thoracic hypoplasia Small chest Small thorax [ more ] 0005257 Showing of 56 | Last updated: 7/1/2019 [rarediseases.info.nih.gov]

[…] head 0000358 Postnatal growth retardation Growth delay as children 0008897 Renal cyst Kidney cyst 0000107 Rib gap 0030280 Scoliosis Abnormal curving of the spine 0002650 Short [rarediseases.info.nih.gov]

CODAS Syndrome

humerus Short phalanx of finger Squared iliac bones Vocal cord paresis Very frequently present symptoms in 80-99% of the cases: Abnormality of dental enamel Abnormality of [dovemed.com]

Short humerus MedGen UID: 316907 •Concept ID: C1832117 • Congenital Abnormality Underdevelopment of the humerus. [ncbi.nlm.nih.gov]

Generalized hypotonia Genu valgum Hypoplasia of dental enamel Hypoplasia of the corpus callosum Hypoplasia of the odontoid process Metaphyseal dysplasia Pes valgus Polyhydramnios Short [dovemed.com]

Rhizomelic Dysplasia - Scoliosis - Retinitis Pigmentosa

[…] neck of thighbone 0100864 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short neck Decreased length of neck 0000470 Short ribs 0000773 Strabismus [rarediseases.info.nih.gov]

[…] upper portion of limb 0008905 Rod-cone dystrophy 0000510 Scoliosis Abnormal curving of the spine 0002650 Short clavicles Short collarbone 0000894 Short femoral neck Short [rarediseases.info.nih.gov]

[…] light Light hypersensitivity [ more ] 0000613 Prominent deltoid tuberosities 0003890 Reduced visual acuity Decreased clarity of vision 0007663 Rhizomelia Disproportionately short [rarediseases.info.nih.gov]

Ulnar Mammary Syndrome

[…] scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis [datagenno.com]

Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus [datagenno.com]

Wiedemann-Rautenstrauch Syndrome

[…] femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712 [rarediseases.info.nih.gov]

Prolactin excess 0000870 Recurrent otitis media Recurrent middle ear infection 0000403 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Short [rarediseases.info.nih.gov]

Omodysplasia Type 1

humerus Commonly - More than 50% cases Fibular hypoplasia Not very common - Between 30% and 50% cases Drusen And 41 more phenotypes. [mendelian.co]

Polydactyly Syndrome Mimics of Skeletal Dysplasias Chronic Intervillous Histiocytosis Focal anomalies upper limb Shortened fetal humerus Aneuopliody syndromic • Down syndrome [slideshare.net]

The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities ( Baxova et al., 1994 ). [mendelian.co]

Grebe Syndrome

[…] digit 0011927 Short femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short phalanx of finger Short finger bones [rarediseases.info.nih.gov]

[…] digit　(短い指趾)　[HP:0011927]　[15402] 　Short femur　(短い大腿骨)　[HP:0003097]　[16110] 　Short humerus　(短い上腕骨)　[HP:0005792]　[16081] 　Short phalanx of finger　(短い指骨)　[HP:0009803]　[16021 [syndromefinder.ncchd.go.jp]

0001371 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Hypoplasia of the ulna Underdeveloped inner large forearm bone 0003022 Pes valgus 0008081 Short [rarediseases.info.nih.gov]

Humerus Trochlea Aplasia

Human phenotypes related to Trochlea of the Humerus, Aplasia of: 33 # Description HPO Frequency HPO Source Accession 1 cleft palate 33 HP:0000175 2 short humerus 33 HP:0005792 [malacards.org]

Name Trochlea Of The Humerus, Aplasia Of Synonyms - Classification bone, developmental, genetic Phenotypes Cleft palate ; Short humerus Associated Genes - Mouse Orthologs [mousephenotype.org]

TROCHLEA OF THE HUMERUS, APLASIA OF Limbs - Aplasia of trochlea of humerus [SNOMEDCT: 732928005 ] [UMLS: C1860773 ] - Flexed elbows - Pronated forearms - Short humerus [UMLS [omim.org]

Rhizomelic Chondrodysplasia Punctata Type 3

[from OMIM] Show allHide all Abnormality of limbs Rhizomelia Short femur Short humerus Abnormality of the musculoskeletal system Epiphyseal stippling Growth abnormality Disproportionate [ncbi.nlm.nih.gov]

The baby had short humerus bones with stippled epiphyses, consistent with the disease. [file.scirp.org]

Figure3: Infantogram of the patient with red arrows showing both short humerus and blue arrows show bilateral short femur bones Click here to view Abdominal and cranial ultrasonography [jcnonweb.com]

Rhizomelic Chondrodysplasia Punctata Type 1

The baby had short humerus bones with stippled epiphy-ses, consistent with the disease. [scirp.org]

The rhizomelic chondrodysplasia presents: short femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit. [tellmegen.com]

Femoral Agenesis - Femoral Hypoplasia

[…] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in [phenotip.com]

[…] limbs upper limb anomalies bilateral short humerus (bilateral humeral hypoplasia) right radial agenesis right cubital agenesis bilateral oligodactyly right 4th-5th finger [humpath.com]

[…] fifth metatarsal Short 5th long bone of foot 0004704 Short fourth metatarsal Short 4th long bone of foot 0004689 Short humerus Short long bone of upper arm Short upper arms [rarediseases.info.nih.gov]

Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

Citation metadata Document controls Main content Abstract : El Síndrome Meir Gorlin (SMG) (#224690), es conocido también como Síndrome "oído-patela-talla baja". Es causado principalmente por una mutación en el gen ORC1, ubicado en el cromosoma 1p32. Presenta heterogeneidad genética, existen 6 tipos. Se[…] [go.gale.com]

Cranioectodermal Dysplasia Type 1

Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of the[…] [ncbi.nlm.nih.gov]

Multiple Synostoses Syndrome Type 4

[…] foot Short feet Small feet [ more ] 0001773 Short hallux Short big toe 0010109 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short lower limbs [rarediseases.info.nih.gov]

Funnel chest 0000767 Progressive conductive hearing impairment 0008607 Proximal symphalangism of hands Fused innermost hinge joints 0006152 Radial deviation of finger 0009466 Short [rarediseases.info.nih.gov]

Phocomelia Type Schinzel

ORPHA:931 Acromesomelic Dysplasia 2A Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... [mousephenotype.org]

OMIM:176240 Acheiropodia Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... [mousephenotype.org]

OMIM:112910 Femur-Fibula-Ulna Complex Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Aplasia/... [mousephenotype.org]

Omodysplasia

1st metacarpal Short humerus Abnormality of the genitourinary system Cryptorchidism Hypospadias Micropenis Abnormality of the musculoskeletal system Frontal bossing IMPORTANT [ncbi.nlm.nih.gov]

[…] bridge Long philtrum Abnormality of limbs Dislocated radial head Hypoplastic distal humeri Limited elbow flexion Limited elbow flexion/extension Rhizomelic arm shortening Short [ncbi.nlm.nih.gov]

Symphalangism - Brachydactyly - Craniosynostosis

Genu valgum St Helena Familial

humerus ORPHA:508542 Occipital Horn Syndrome Coxa valga, Short humerus, Pelvic bone exostoses, Short clavicles, Genu valgum, Capitate-hamate f... [mousephenotype.org]

OMIM:309350 Short-Rib Thoracic Dysplasia 21 Without Polydactyly Brachydactyly, Trident pelvis, Short humerus, Short long bone, Bowed humerus OMIM:619479 Cranioectodermal Dysplasia [mousephenotype.org]

Thin long bone diaphyses, 2-3 toe syndactyly, Long toe, Short femur, Long fingers, Short humerus,... [mousephenotype.org]

Absent Tibia - Polydactyly - Arachnoid Cyst Syndrome

[…] or femur is short Mesomelia — humerus and femur normal, but forearm or calf are short Micromelia — when both segments are shortened [quizlet.com]

Short Femur with Short Screen Normal Short Femur Short Femur Humerus and Humerus Femur Nuchal Echogeni Risk Ultrasonography by BPD/FL by O/E by O/E by O/E orHumerus Fold [glowm.com]

[…] layer between the diaphysis and the outer end of the bone — where bone starts to widen Epiphysis = very end of the bone — rounded end, growth plate Rhizomelia — just the humerus [quizlet.com]

Congenital Disorder of Glycosylation Type 1G

Short humerus MedGen UID: 316907 •Concept ID: C1832117 • Congenital Abnormality Underdevelopment of the humerus. [ncbi.nlm.nih.gov]

Metaphyseal Acroscyphodysplasia

[…] finger Stubby finger Stubby fingers [ more ] 0009381 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short metacarpal Shortened long bone of [rarediseases.info.nih.gov]

Polydactyly Syndrome Mimics of Skeletal Dysplasias Chronic Intervillous Histiocytosis Focal anomalies upper limb Shortened fetal humerus Aneuopliody syndromic • Down syndrome [slideshare.net]

[…] retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Narrow pelvis bone 0003275 Platyspondyly Flattened vertebrae 0000926 Short [rarediseases.info.nih.gov]

Femoral Hypoplasia

[…] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in [phenotip.com]

Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular asymmetry Maternal diabetes mellitus Micrognathia/retrognathia Rhizomelia/short [phenotip.com]

Rhizomelic Chondrodysplasia Punctata

The baby had short humerus bones with stippled epiphyses, consistent with the disease. [file.scirp.org]

The rhizomelic chondrodysplasia presents: short femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit. [tellmegen.com]

Congenital Longitudinal Deficiency of the Ulna

Type III (distal) – short humerus attached to hand.  Surgery – very little role. 9. ii) Radial ray dysplasia (aka: Radial club hand/Preaxial deficiency/Longitudinal radial [slideshare.net]

ICD 9 CM Field Value Diagnosis Code: 755.23 Long Description: Longitudinal deficiency, combined, involving humerus, radius, and ulna (complete or incomplete) Short Description [emedcodes.com]

The humerus may or may not be short, and deficiencies of the capitellum and trochlea are common. Elbow motion is usually diminished more in flexion than in extension. [emedicine.medscape.com]

Chondrodysplasia Punctata

The baby had short humerus bones with stippled epiphyses, consistent with the disease. [file.scirp.org]

The baby had short humerus bones with stippled epiphy-ses, consistent with the disease. [scirp.org]

Humero-Radial Synostosis

There was aplasia of the left ulna and a short left radius fused to a very short humerus. [annsaudimed.net]

Type III (distal) – short humerus attached to hand.  Surgery – very little role. 9. ii) Radial ray dysplasia (aka: Radial club hand/Preaxial deficiency/Longitudinal radial [de.slideshare.net]

Intercalary arrest  Intervening segment of limb is absent (arm/forearm)  Thalidomide in 1st trimester  Type I (complete) - hand directly attached to trunk Type II (proximal) – short [de.slideshare.net]

Coxoauricular Syndrome

Short humerus Pica Elevated calcitonin Hip dysplasia Limitation of joint mobility Gait disturbance Large iliac wings Abnormal form of the vertebral bodies Delayed eruption [mendelian.co]

humerus SOURCES: OMIM MONDO DOID GARD MESH UMLS ORPHANET More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 Low match ENCHONDROMATOSIS Enchondromatosis is [mendelian.co]

[…] foot Failure to thrive Toe syndactyly Prominent forehead Midface retrusion Malar flattening Atrial septal defect Brachydactyly Growth delay Short femur Epiphyseal stippling [mendelian.co]

Congenital Deformities of Limbs

Short humerus This condition is most commonly due to damage of the growth plate of the humerus from infection, bone cyst, or fracture. [lifebridgehealth.org]