Presentation
Digits present as globular appendages and are characteristic of the condition. The disease is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1 (CDMP-1). [ncbi.nlm.nih.gov]
A diagnosis is based on presenting clinical signs and histopathological features of chondrodysplasia in affected limbs. A differential diagnosis would include chondrodysplasia in Dexter cattle, which usually present with cleft palate [5]. [vetbook.org]
Abstract A form of lethal short-limbed dwarfism (a new chondrodystrophy) has been presented. The clinical, radiological and histological characteristics of this entity have been discussed and illustrated. [link.springer.com]
Nevertheless, MPS IV (Morquio syndrome) usually presents in children aged 2‘4 years while other types present late in childhood. Significant morbidity can arise from neuro-orthopedic impairment, and the lifespan may be shortened. [doi.org]
In achondroplasia the dwarfism is readily apparent at birth. likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth. [en.wikipedia.org]
Entire Body System
- Short Stature
It’s distinguished by a moderate to severe form of disproportionate short-limb short stature. The limb shortening is fundamentally confined to the proximal limb segments i.e. Femurs and humeri. [en.wikipedia.org]
RESEARCH CONCLUDING REMARKS disclosure statement acknowledgments literature cited Abstract Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. [doi.org]
Convert to ICD-10-CM : 756.4 converts approximately to: 2015/16 ICD-10-CM Q77.1 Thanatophoric short stature Or: 2015/16 ICD-10-CM Q77.4 Achondroplasia Or: 2015/16 ICD-10-CM Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and [icd9data.com]
(GEMS): ICD-10-CM Code: Q77.1 - Thanatophoric short stature (approximate) ICD-10-CM Code: Q77.4 - Achondroplasia (approximate) ICD-10-CM Code: Q77.8 - Other osteochondrodysplasia with defects of growth of tubular bones and spine (approximate) ICD-10- [emedcodes.com]
- Fatigue
*bacterial vaginosis【細菌性膣症】 *bad breath【口臭】(halitosis) *basal cell adenoma【基底細胞腺腫】 *basal cell carcinoma【基底細胞癌】 *basal cell nevus syndrome【基底細胞母斑症候群】 *basedow's disease【バセドウ病】 *basilar artery aneurysm【脳底動脈瘤】 *basilar meningitis【脳底髄膜炎∥頭蓋底髄膜炎】 *battle fatigue [medo.jp]
Affected children complain of fatigue during long walking. Waddling gait may be present but is less consistent than in pseudoachondroplasia. [ncbi.nlm.nih.gov]
- Asymptomatic
Somatic mosaicism for variants that result in lethal OI can produce a mild OI phenotype if the variant is present in the majority of somatic cells; otherwise, the mosaicism is generally asymptomatic. [ncbi.nlm.nih.gov]
Respiratoric
- Cough
形 *ascitic) *aseptic meningitis【無菌性髄膜炎】 *aspergillosis【アスペルギルス症】 *aspermatism【無精液(症)】(aspermia) *aspermia【無精液(症)】(aspermatism) *asphyxia【窒息】(suffocation) *aspiration pneumonia【吸引性肺炎∥嚥下性肺炎】 *asterixis【羽ばたき震顫】(liver flap; flapping tremor) *asthma【喘息】 ⇒cough [medo.jp]
Basilar impression can cause headache with coughing, trigeminal neuralgia, loss of function of the extremities, or parasthesias. At its most severe levels of involvement, sleep apnea and death can occur. [ncbi.nlm.nih.gov]
- Respiratory Insufficiency
At least six clinical forms are currently recognized based on age at diagnosis and severity of features, including: Perinatal (lethal) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia; Perinatal (benign) hypophosphatasia with [ncbi.nlm.nih.gov]
- Dyspnea
[…] paronychia【爪郭炎∥爪壁炎】 *paronychomycosis【爪囲真菌症】 *paroophoritis【卵巣傍体炎∥傍卵巣炎】 *parophthalmia【眼傍結合組織炎∥眼周囲炎】 *parorexia【異物嗜好】 *parostosis【傍骨症】 *parotitis【耳下腺炎】 ⇒chronic recurrent parotitis【慢性再発性耳下腺炎】 ⇒epidemic parotitis【流行性耳下腺炎】(parotitis epidemica) *paroxysmal dyspnea [medo.jp]
Gastrointestinal
- Nausea
[…] myxoma【歯原性粘液腫】 *myxomatosis【粘液腫症】 *myxorrhea【粘液漏】 *myxosarcoma【粘液肉腫】 (N) *naevus fuscocaerules ophthalmomaxillaris【眼上顎褐青色母斑】[L] *nail ringworm【爪白癬】(tinea unguium[L]) *nanocephaly【小頭症】 *nasal obstruction【鼻閉塞】 *nasal polyp【鼻ポリープ∥鼻茸】 *nasopharyngitis【鼻咽頭炎】 *nausea [medo.jp]
- Vomiting
内臓発症】 *visceral ectopia【内臓転位(症)】 *visceral pain【内臓痛】(visceralgia) *visceral rheumatism【内臓リウマチ】 *visceralgia【内臓痛】(visceral pain) *vitreous clouding【硝子体混濁】(opacity of vitreous body) *vitreous hemorrhage【硝子体出血】 *vocal-cord adduction【声帯内転】 *volvulus【腸捻転】 *vomiting [medo.jp]
Cardiovascular
- Hypotension
[…] hypomyotonia【筋弛緩(症)】 *hypopancreatism【膵臓機能低下[症]∥膵臓機能減退(症)】 *hypophonia【発音不全】 *hypophoria【下斜位】 *hypoplasia【低形成∥減形成】 *hypoplastic left heart syndrome【左心低形成症候群】[略 HLHS] *hypopnea【呼吸低下】 *hypopotassemia【低カリウム血(症)】 *hypoproteinemia【低蛋白血症】 *hyposecretion【分泌不全∥分泌減退】 *hypotension [medo.jp]
Musculoskeletal
- Arthritis
Differentiate from twisted leg, infectious synovitis, rickets, infectious arthritis, ruptured ligaments. Treatment For flock proceed as for prevention, no value to affected bird. [thepoultrysite.com]
The child may also experience breathing difficulties, scoliosis & arthritis. [signssymptoms.org]
Structurally, scoliosis, bowed legs ( genu varum ), and arthritis may result. Treatment [ edit ] There is no treatment at this time to promote bone growth in chondrodystrophy patients. [en.wikipedia.org]
【関節炎】 ⇒chronic inflammatory arthritis【慢性炎症性関節炎】 ⇒gouty arthritis【痛風性関節炎】 ⇒rhematoid arthritis【リウマチ性関節炎】 ⇒traumatic arthritis【外傷性関節炎】 ⇒uratic arthritis【痛風性関節炎】 *arthrocele【関節瘤】 *arthrochalasis【関節弛緩症】 *arthrochondritis【関節軟骨炎】 *arthroclisis【関節強直】 *arthrogryposis [medo.jp]
Arthritis Rheum. 2011; 63 :159–67. [ PubMed : 20936634 ] Hecht JT, Montufar-Solis D, Decker G, Lawler J, Daniels K, Duke PJ. [ncbi.nlm.nih.gov]
- Normal Stature
[…] than 1 in 10,000) One child with normal stature; the probability of the next having chondrodystrophy is 50% (1 in 2) One child with normal stature; the probability of the next not having chondrodystrophy is 50% (1 in 2) Both parents with chondrodystrophy [en.wikipedia.org]
Let us name the dominant allele for normal stature "T", and the recessive allele coding for Chondrodystrophy "t"; either one or the other is going to be chosen during random selection for a particular "seat" on its chromosome. [diki.pl]
[…] to fractures, normal dentition, normal stature, and normal life span. [ncbi.nlm.nih.gov]
- Short Trunk
There are two types of skeletal dysplasia: Type 1 consists of a long trunk & short limbs & Type 2 is made up of a short trunk & normal-sized extremeties. [signssymptoms.org]
Type 1 (short limb dysplasia), the more common of the two, is characterised by a long trunk and extremely shortened extremities. Type 2, short-trunk dysplasia, is characterised by a shortened trunk and normal size extremities. [en.wikipedia.org]
Anthropometric measurements are of particular significance for determining the type of disproportionate short-stature, short-limb versus short-trunk. The morphologic examination can provide valuable clues to the differential diagnosis. [doi.org]
- Lordosis
Scoliosis/lordosis can be observed in childhood and may persist into adulthood. Osteoarthritis of the upper extremities and the spine may occur in early adult life. [ncbi.nlm.nih.gov]
Clinically, patients present with rhizomelic short-limb short stature particularly affecting the humeri and femora, macrocephaly, frontal bossing, midface hypoplasia, exaggerated lumbar lordosis, genu varum, and trident hand. [doi.org]
肝性手掌紅斑】(hepatic palmar erythema) *lobar pneumonia【大葉性肺炎】 *lobular atelectasis【小葉性無気肺】 *lobular glomerulonephritis【分葉性糸球体腎炎】 *lobular pneumonia【小葉性肺炎】 *localized scleroderma【限局性強皮症】 *longitudinal fracture【縦骨折】(vertical fracture) *lordoscoliosis【脊椎前側彎症】 *lordosis [medo.jp]
- Severe Short Stature
DYSPLASIA RESEARCH CONCLUDING REMARKS disclosure statement acknowledgments literature cited Abstract Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. [doi.org]
Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. [ncbi.nlm.nih.gov]
Face, Head & Neck
- Frontal Bossing
Clinically, patients present with rhizomelic short-limb short stature particularly affecting the humeri and femora, macrocephaly, frontal bossing, midface hypoplasia, exaggerated lumbar lordosis, genu varum, and trident hand. [doi.org]
Cole-Carpenter syndrome (OMIM 112240 ) is characterized by bone deformities, multiple fractures, ocular proptosis, shallow orbits, orbital craniosynostosis, frontal bossing, and hydrocephalus [ Cole & Carpenter 1987 ]. [ncbi.nlm.nih.gov]
Urogenital
- Amenorrhea
上皮線維象牙質腫】 *ameloblastic fibro-odontoma【エナメル上皮線維歯牙腫】 *ameloblastic fibrosarcoma【エナメル上皮線維肉腫】 *ameloblastic sarcoma【=ameloblastic fibrosarcoma】 *ameloblastoma【エナメル上皮腫】 ⇒malignant ameloblastoma【悪性エナメル上皮腫】 *amelogenesis imperfecta【エナメル質形成不全症】 *amelus【無肢体】 *amenorrhea [medo.jp]
Treatment
Treatment - Chondrodystrophy There is no treatment at this time to promote actual bone growth in chondrodystrophy patients. [checkorphan.org]
Treatment For flock proceed as for prevention, no value to affected bird. Prevention Addition of manganese, choline, vitamins, correct mineral balance. [thepoultrysite.com]
Treatment [ edit ] There is no treatment at this time to promote bone growth in chondrodystrophy patients. [en.wikipedia.org]
There is no treatment at this time to promote actual bone growth in chondrodystrophy patients. The inheritance of the Chondrodystrophy gene is as follows: The games accommodate athletes who are 4'10" or less with chondrodystrophy or related causes. [diki.pl]
Prognosis
Once the child is diagnosed the parents have to monitor the children because of several different factors Prognosis - Chondrodystrophy Not supplied. [checkorphan.org]
Prognosis and treatment During the neonatal period, the mortality rate is high (25%), usually caused by airway obstruction. If patients survive this period, the prognosis is favorable. [scielo.br]
This imperfect osseocartilaginous biology is usually attributed to defects in structural proteins, metabolic processes, or growth plate regulation. [1], [2], [3], [4] Arriving at a definitive diagnosis is critical in understanding prognosis, genetic counseling [doi.org]
This classification system can be helpful in providing information about prognosis and management for a given individual. [ncbi.nlm.nih.gov]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
DISORDER OF SOMATIC MOSAICISM EPIGENETIC CONTROL: MUTATIONS IN HISTONE ACETYLTRANSFERASE GENES CAUSE A VARIETY OF DISORDERS MUTATIONS IN miRNAs AND SEVERE SHORT STATURE THE PRIMORDIAL DWARFISMS THE SKELETAL CILIOPATHIES NOVEL SKELETAL DISORDERS OF UNKNOWN ETIOLOGY [doi.org]
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. 2001; 106 :244–50. [ PubMed : 11891674 ] Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. [ncbi.nlm.nih.gov]
Epidemiology
Kaplan, Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_19, (335-348), (2010). Richard M. Pauli, Achondroplasia, Management of Genetic Syndromes, (17-37), (2010). James A. J. [doi.org]
Pathophysiology
Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed) 2017;22:385-406. [ PUBMED ] 42. Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, et al. [doi.org]
Prevention
Treatment For flock proceed as for prevention, no value to affected bird. Prevention Addition of manganese, choline, vitamins, correct mineral balance. [thepoultrysite.com]
Prevention - Chondrodystrophy Not supplied. Diagnosis - Chondrodystrophy There are several ways to determine if a child has Chondrodystrophy including parent testing and x-rays. [checkorphan.org]
We recommend minimizing its phenotypic expression because an unacceptably large proportion of condors (up to 78 out of 146) would be prevented from breeding under a selection strategy designed to eliminate the allele. [journals.cambridge.org]
Follistatin-derived peptide expression in muscle decreases adipose tissue mass and prevents hepatic steatosis. Am J Physiol Endocrinol Metab. 2011; 300(3): E543-53. [ Pubmed ] 10: Uezumi A, Fukada S, Yamamoto N, Takeda S, Tsuchida K. [fujita-hu.ac.jp]
[…] contractures, and prevent head and spinal deformity. [ncbi.nlm.nih.gov]