Possible Causes for absent clavicle Cleidocranial Dysplasia Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development [ncbi.nlm.nih.gov] BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent clavicles, increased head circumference, large [ncbi.nlm.nih.gov] ( absent clavicles ): may have two separate hypoplastic segments 5 supernumerary ribs hemivertebrae with spondylosis small and high scapulae Pelvis hypoplasia of iliac bones [web.archive.org] Crane-Heise Syndrome […] is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles CRANE-HEISE SYNDROME Cleft Lip/Palate [wikidata.org] There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and genital hypoplasia. [ncbi.nlm.nih.gov] clavicles. [ncbi.nlm.nih.gov] Lenz-Majewski Syndrome /small skin Absent/underdeveloped skin [ more ] 0008065 Aplastic clavicle Absent collarbone 0006660 Brachydactyly Short fingers or toes 0001156 Broad forehead Increased width [rarediseases.info.nih.gov] /small middle finger bone of the hand Absent/underdeveloped middle finger bone of the hand [ more ] 0009843 Autosomal dominant inheritance 0000006 Broad clavicles Broad collarbone [rarediseases.info.nih.gov] Enamel abnormalities Enamel abnormality [ more ] 0000682 Abnormality of the metaphysis Abnormality of the wide portion of a long bone 0000944 Aplasia/Hypoplasia of the skin Absent [rarediseases.info.nih.gov] Oculootoradial Syndrome […] anus 0002023 Aplastic clavicle Absent collarbone 0006660 Arrhythmia Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ] 0011675 Leukocytosis [rarediseases.info.nih.gov] [ more ] 0009778 Synostosis of carpal bones Fusion of wrist bones 0005048 Triphalangeal thumb Finger-like thumb 0001199 5%-29% of people have these symptoms Anal atresia Absent [rarediseases.info.nih.gov] Polyneuropathy […] on styloid/malleolus, but with perception on elbow/knee, 2; absent on elbow/knee, but with perception on clavicle/crista iliaca, 1; and absent on clavicle/crista iliaca, [jamanetwork.com] […] perception on middle finger (at least 15 seconds)/or big toe (at least 10 seconds), 4; decreased or absent on middle finger/big toe, but with perception on styloid/malleolus, 3; absent [jamanetwork.com] Nestor-Guillermo Progeria Syndrome clavicles skeletal 100 % 21932319 2013-08-06 Thorax deformity skeletal 100 % 21932319 2013-08-06 Thin limbs skeletal 100 % 21932319 2013-08-06 Stiff joints skeletal 100 % [brain-aging.com] Plain radiographs of her hands and chest showed marked osteolysis (acro-osteolysis of terminal phalanges and absent clavicles; Figures 3a and b, respectively). [nature.com] % 21932319 2013-08-06 Decreased subcutaneous fat integumentary 100 % 21932319 2013-08-06 Skin pigmentation changes integumentary 100 % 21932319 2013-08-06 Hypoplastic or absent [brain-aging.com] Parietal Foramina with Cleidocranial Dysplasia clavicles and deficient skull development manifested by open sutures and large fontanels with delayed closure. [pediatrics.aappublications.org] Cleidocranial dysplasia, characterized by a severe midline ossification defect of the skull vault associated with frontal bossing, absent or hypoplastic clavicles, and dental [ncbi.nlm.nih.gov] […] may be completely absent on one or both sides, but more commonly are underdeveloped, usually deficient at the end closest to the shoulders. [jnsbm.org] Coxa Vara […] being absent, absence of medial third of clavicle and pseudoarthrosis of the clavicle. [scielo.org.za] The sternal aspect of both clavicles was absent, and he was able to almost approximate his shoulders under his chin (Figure 2). [scielo.org.za] The proband's paternal grandmother (III-3) has short stature, with features in keeping with CCD, including an absent right clavicle and wormian bones in the cranium. [scielo.org.za] Pyknodysostosis […] fragile bones that may fracture easily, abnormal or absent collarbone (clavicle), and skull abnormalities with a protruding forehead and bulge on the back of the skull caused [wa.kaiserpermanente.org] This disorder is characterized by short stature, increased bone density (osteosclerosis/osteopetrosis), underdevelopment of the tips of fingers with absent or small nails, [wa.kaiserpermanente.org] Facial Nerve Paralysis of the Newborn and crepitus or irregularity along the clavicle. [aafp.org] Newborns may present with decreased or absent movement and pain or tenderness on movement of the arm on the affected side, deformity and discoloration over the fracture site [aafp.org] Shoulder Dislocation Associated fracture (30% of cases) - eg, humeral head, greater tuberosity, clavicle, acromion. Recurrent shoulder dislocation. [patient.info] Axillary artery damage (more likely if brachial plexus injury is present - look for axillary haematoma, a cool limb and absent or reduced pulses). [patient.info] Generalized Connective Tissue Syndrome clavicles (rare); pulmonary hypoplasia (rare). [accesspediatrics.mhmedical.com] […] dilation, cerebellar hypoplasia, agenesis of corpus callosum; multiple joint contractures present at birth; scoliosis, arachnodactyly; clubfeet; pectus excavatum or carinatum, absent [accesspediatrics.mhmedical.com] Autosomal Dominant Prognathism The thoracic cage is small with short ribs, with underdeveloped clavicles to varying degrees and in approximately 10% of cases, clavicles are completely absent. [amhsr.org] […] or hypoplastic clavicles, and depressed nasal bridge — are distinct, and cleidocranial dysplasia is not associated with immunologic dysfunction. [nejm.org] Chest X-ray shows cone shaped thorax with narrow upper thoracic diameter, absent or hypoplastic clavicles and scapulae.[ 9 ] Pseudoarthrosis can be considered as differential [amhsr.org] Gorham-Stout Disease On palpation, the scapula and the clavicle were absent. [academic.oup.com] Intraductal Breast Carcinoma (Id: 298766001) Modified Dukes stage C2 (Id: 57306005) Biopsy of lesion of bursa (Id: 178121006) Anaplasia absent (Id: 405953006) pT3: Tumor extends to invade the medial [bioportal.bioontology.org] […] cauterization of lesion of upper gastrointestinal tract (Id: 173806000) Radical excision of lesion of skin involving underlying or adjacent structure (Id: 53652006) Lesion of clavicle [bioportal.bioontology.org] Micrognathism Radiographic features severe neurologic impairment cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognathia absent thumbs and distal phalanges [radiopaedia.org] Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones (clavicles). [findzebra.com] Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels [findzebra.com] Hypergonadotropic Hypogonadism - Partial Alopecia […] eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course [ab-y-ss.com] […] and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent [ab-y-ss.com] Skeletal Dysplasia (B) AP view of the upper chest showing an absent right clavicle and small hypoplastic medial segment (arrow) on the left. 7. Thanatophoric dysplasia. 8. [slideshare.net] Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). [ghr.nlm.nih.gov] Hereditary Hyperekplexia […] located_in clavicle along with delayed closing of fontanels in the located_in skull. [amp.pharm.mssm.edu] X-linked periventricular heterotopia Cleidocranial dysostosis An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent [amp.pharm.mssm.edu] Hypertelorism clavicles, vertebral anomalies, and pectus excavatum (Cohen 1979). [rrnursingschool.biz] […] anterior cranium bifidum) and bulging of the forehead, repre- the coronal sutures), and various skeletal and soft tissue abnormalities, including prominent scapulae, small or absent [rrnursingschool.biz] Transient Familial Neonatal Hyperbilirubinemia and crepitus or irregularity along the clavicle. [aafp.org] Newborns may present with decreased or absent movement and pain or tenderness on movement of the arm on the affected side, deformity and discoloration over the fracture site [aafp.org] Wolcott-Rallison Syndrome The lateral clavicle hook: its objective measurement and its diagnostic value in Holt-Oram syndrome, diastrophic dwarfism, thrombocytopenia-absent radius syndrome and trisomy [link.springer.com] Ulnar Mammary Syndrome […] lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis [datagenno.com] Pyloric stenosis Hands Hypoplastic flexion creases of first and second digits Mammary Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent [datagenno.com] Mandibuloacral Dysplasia with Type B Lipodystrophy Absent/small collarbone Absent/underdeveloped collarbone [ more ] 0006710 Dermal atrophy Skin degeneration 0004334 Large fontanelles Wide fontanelles 0000239 Micrognathia [rarediseases.info.nih.gov] Showing of 49 Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Acroosteolysis of distal phalanges (feet) 0001870 Aplasia/Hypoplasia of the clavicles [rarediseases.info.nih.gov] Stiff Skin Syndrome There may be skeletal abnormalities, such as dystrophic clavicles and coxa vulga and joint contractures. Nipples : may be hypoplastic. [drmhijazy.com] Sexual maturation : is absent. Intelligence is normal. Death usually occurs in the second decade as a result of severe generalized atheroma. [drmhijazy.com] Infective Eczematoid Dermatitis […] or hypoplastic clavicles, and depressed nasal bridge — are distinct, and cleidocranial dysplasia is not associated with immunologic dysfunction. [nejm.org] […] roots. 52 Cleidocranial dysplasia thus superficially resembles the hyper-IgE syndrome, but the dental and skeletal abnormalities of cleidocranial dysplasia — short stature, absent [nejm.org] Cervical Rib Syndrome In one case, a “C-shaped” clavicle anomaly was observed. [medcraveonline.com] Absent internal thoracic artery was also noted in one case. 13 Thoracic outlet syndrome (TOS) is a controversial clinical entity in medicine that is defined as a set of symptoms [medcraveonline.com] Gingival Fibromatosis-Progressive Deafness Syndrome […] subcutaneous fat Absence of pubertal development Bilateral coxa valga Reticulated skin pigmentation Hypoplastic facial bones Sinus tachycardia Mitral valve calcification Absent [mendelian.co] […] coronary artery atherosclerosis Insulin-resistant diabetes mellitus at puberty Widely patent fontanelles and sutures Decreased testosterone in males Carcinoid tumor Aplastic clavicle [mendelian.co] […] defects of the phalanges of the hand Lack of skin elasticity Ovoid vertebral bodies Transient ischemic attack Hyperphosphatemia Abnormality of the eyelashes Scleroderma Short clavicles [mendelian.co] Limb-Girdle Muscular Dystrophy Type 1H […] eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course [abcam.com] […] and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent [abcam.com] Congenital Pseudoarthrosis of Clavicle absent 5 th –8 th right ribs and cardiomegaly Click here to view Discussion The clavicle is the first bone to ossify in utero at about the 6 th –7 th week of life; but its [saudijhealthsci.org] Its pathogenesis remains unclear, but all the theories corroborate the idea that fusion of the ossification nuclei of the clavicle is absent. [ncbi.nlm.nih.gov] The full blood count showed a packed cell volume of 45.8% while other parameters were not remarkable; chest X-ray showed absent 5 th –8 th right ribs, double right/left clavicles [saudijhealthsci.org]
