{"orpha":3003,"name":"Pyknoachondrogenesis","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Camera syndrome"],"definition":"A rare lethal chondrodysplasia characterized by severe generalized osteosclerosis. Main clinical manifestations include large head, palpebral edema, flat nose, low-set ears, hexagon-like mouth, a short neck (hidden by skin folds), a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism with rather normal-length hands and feet. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere. It has a lethal outcome, either prenatally or during the early neonatal period. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3003/","orphanet_url":"https://www.orpha.net/en/disease/detail/3003","names":{"fr":{"name":"Pycnoachondrogenèse","synonyms":["Syndrome de Camera"],"definition":"La pyknoachondrogenèse est une ostéochondrodysplasie squelettique létale caractérisée par une ostéosclérose sévère généralisée."},"de":{"name":"Pyknoachondrogenesie","synonyms":["Camera-Syndrom"],"definition":"Die Pyknoachondrogenesie ist eine letale osteochondrodysplastische Skelettdysplasie mit generalisierter Osteosklerose."},"es":{"name":"Picnoacondrogénesis","definition":"Es una condrodisplasia letal poco frecuente, caracterizada por osteosclerosis generalizada grave. Sus principales manifestaciones clínicas incluyen cabeza grande, edema palpebral, nariz plana, orejas de implantación baja, boca de forma hexagonal, cuello corto (oculto por pliegues cutáneos), tronco corto y angosto, abdomen prominente y talla baja extrema micromélica con manos y pies de longitud relativamente normal. Las radiografías muestran una marcada esclerosis de los huesos faciales y de las extremidades, y una osificación deficiente en otras zonas. Tiene un desenlace fatal, tanto prenatalmente como durante el período neonatal temprano. No se han descrito más casos en la literatura desde 1986."},"it":{"name":"Picnoacondrogenesi"},"nl":{"name":"Pycnoachondrogenese","synonyms":["Syndroom van Camera"],"definition":"Een zeldzame chondrodysplasie, gekenmerkt door ernstige gegeneraliseerde osteosclerose. De voornaamste klinische manifestaties zijn een groot hoofd, oedeem van ooglid, platte neus, laagstaande oren, hexagonaalvormige mond, korte hals/nek (verborgen door huidplooien), korte en brede romp, prominerend abdomen, en ernstige dwerggroei met micromelie en met handen en voeten met eerder normale lengte. Röntgenopname toont duidelijke sclerose van aangezichtsbeenderen en extremiteiten, en ondermaatse ossificatie elders. De ziekte heeft een letale afloop, hetzij prenataal, hetzij tijdens de vroege neonatale periode. Sinds 1986 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Picnoacondrogénese"},"pl":{"name":"Pyknoachondrogeneza","synonyms":["Zespół Camera"],"definition":"Rzadka śmiertelna chondrodysplazja charakteryzująca się ciężką uogólnioną osteosklerozą. Główne objawy kliniczne obejmują dużą głowę, obrzęk powiek, płaski nos, nisko osadzone uszy, sześciokątne usta, krótką szyję (otoczoną fałdami skóry), krótki i szeroki tułów, wydatny brzuch i ciężką karłowatość mikromeliczną dłońmi i stopami raczej prawidowej długości. Zdjęcia rentgenowskie pokazują wyraźną stwardnienie kości twarzy i kończyn oraz słabe kostnienie w innych lokalizacjach. Choroba prowadzi do śmierci w okresie prenatalnym lub we wczesnym okresie noworodkowym. Od 1986 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Pyknoachondrogeneze","synonyms":["Camerův syndrom"]},"uk":{"name":"Пікноахондрогенез","synonyms":["Синдром Камера"],"definition":"A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis."},"zh":{"name":"频发性无软骨生成","synonyms":["卡梅拉氏综合征"]},"tr":{"name":"Piknoakondrogenez","synonyms":["Camera sendromu"]}},"xrefs":[{"source":"OMIM","code":"265880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB82.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"588435239"},{"source":"MONDO","code":"0009942","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536251","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849523","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4610","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93465,"name":"Lethal chondrodysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"7460382[PMID]_3791681[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7460382[PMID]_3791681[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-15","source":"3791681[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012790","label":"Abnormal intramembranous ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011338","label":"Abnormality of mouth shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011867","label":"Abnormality of the wing of the ilium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008817","label":"Aplastic pubic bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000888","label":"Horizontal ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003175","label":"Hypoplastic ischia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040194","label":"Increased head circumference","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100748","label":"Muscular edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100856","label":"Poorly ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002694","label":"Sclerosis of skull base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100866","label":"Short iliac bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030290","label":"Unossified sacrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null}]}}