Autosomal recessive cutis laxa, type 2B (Q99447): Difference between revisions
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Cútis laxa autossômica recessiva, tipo 2B (ARCL-2B) é caracterizada por pele enrugada inelástica, especialmente no dorso das extremidades e no abdômen, osteoporose, luxação do quadril, retardo de crescimento intrauterino e pós-natal e retardo no desenvolvimento. As características distintivas incluem fácies dismórfica triangular com aparência progeroide, nariz bulboso, prognatismo, hipotelorismo, pregas epicânticas, esclera azulada, orelhas grandes e microcefalia. Algumas dessas características se sobrepõem às do geroderma osteodisplásico, ARCL-2A, síndrome da pele enrugada e ARCL-3 (síndrome de De Barsy). ARCL-IIB resulta de mutações no gene PYCR1, que codifica uma enzima mitocondrial envolvida no metabolismo da prolina. | |||
| description / en | description / en | ||
Autosomal recessive cutis laxa, type 2B (ARCL-2B) is characterised by wrinkled inelastic skin, especially on the dorsa of the extremities and on the abdomen, osteoporosis, hip dislocation, intrauterine and postnatal growth retardation and developmental delay. Distinctive features include triangular dysmorphic facies with progeroid appearance, bulbous nose, prognathism, hypotelorism, epicanthal folds, blue sclerae, large ears and microcephaly. Some of these features overlap with those of geroderma osteodysplasticum, ARCL-2A, wrinkled skin syndrome and ARCL-3 (De Barsy syndrome). ARCL-IIB results from mutations in the PYCR1 gene, which encodes a mitochondrial enzyme involved in proline metabolism. | |||
Revision as of 16:06, 16 August 2026
Autosomal recessive cutis laxa, type 2B (ARCL-2B) is characterised by wrinkled inelastic skin, especially on the dorsa of the extremities and on the abdomen, osteoporosis, hip dislocation, intrauterine and postnatal growth retardation and developmental delay. Distinctive features include triangular dysmorphic facies with progeroid appearance, bulbous nose, prognathism, hypotelorism, epicanthal folds, blue sclerae, large ears and microcephaly. Some of these features overlap with those of geroderma osteodysplasticum, ARCL-2A, wrinkled skin syndrome and ARCL-3 (De Barsy syndrome). ARCL-IIB results from mutations in the PYCR1 gene, which encodes a mitochondrial enzyme involved in proline metabolism.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1052317213 |
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| English | Autosomal recessive cutis laxa, type 2B |
Autosomal recessive cutis laxa, type 2B (ARCL-2B) is characterised by wrinkled inelastic skin, especially on the dorsa of the extremities and on the abdomen, osteoporosis, hip dislocation, intrauterine and postnatal growth retardation and developmental delay. Distinctive features include triangular dysmorphic facies with progeroid appearance, bulbous nose, prognathism, hypotelorism, epicanthal folds, blue sclerae, large ears and microcephaly. Some of these features overlap with those of geroderma osteodysplasticum, ARCL-2A, wrinkled skin syndrome and ARCL-3 (De Barsy syndrome). ARCL-IIB results from mutations in the PYCR1 gene, which encodes a mitochondrial enzyme involved in proline metabolism. |
