Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial...

association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly. Nomograms for normal values...

patients with recessive forms of OI include chaperone HSP47 (Cole-Carpenter syndrome) and FKBP65. Mutations in these chaperones result in an improper folding...

COG8-congenital disorder of glycosylation Cohen syndrome Cold-induced sweating syndrome 1 Cole-Carpenter syndrome 1 Complex lethal osteochondrodysplasia Congenital...

Cole–Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. It is...

1q21.1 deletion syndrome Chromosome 4Q32.1-q32.2 triplication syndrome Chromosome 5p13 duplication syndrome Cole-Carpenter syndrome 2 Craniorhiny Craniosynostosis...

nose-acral anomalies syndrome Weill-Marchesani syndrome Apert syndrome Carpenter syndrome Microcephaly Pfeiffer syndrome Saethre-Chotzen syndrome In humans, brachycephaly...

Antley-Bixler syndrome Beare-Stevenson cutis gyrata syndrome Carpenter syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull-multiple...

Shprintzen-Goldberg syndrome: craniosynostosis with marfanoid habitus and tissue anomalies. Apert syndrome Carpenter syndrome Crouzon syndrome Muenke syndrome Pfeiffer...

without muscular or ocular involvement Coffin-Siris syndrome Cohen-Gibson syndrome Cole-Carpenter syndrome Congenital disorder of glycosylation, type Iw, autosomal...

syndrome (ACPS type I) is now classified as Pfeiffer syndrome (ACS type V); Goodman syndrome (ACPS type IV) is classified as a variation of Carpenter...

these syndromes (it is present in up to 18% of the normal population). Down syndrome Turner syndrome Aarskog syndrome Carpenter syndrome Seckel syndrome Cornelia...

of medical syndromes. 13q deletion syndrome Cordoba Syndrome 17q21.31 microdeletion syndrome 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication...

Bardet–Biedl syndrome Carpenter syndrome Cornelia de Lange syndrome Edwards syndrome Jackson–Weiss syndrome Fetal hydantoin syndrome Miller syndrome Pfeiffer...

Levine Carpenter syndrome". www.orpha.net. Retrieved 2022-06-13.{{cite web}}: CS1 maint: numeric names: authors list (link) Sensory 5. "Proud syndrome | Rare...

George Alfred Carpenter (1859–1910) was an English physician and paediatrician. Carpenter syndrome is named for him. Born at Lambeth, on 25 December 1859...

glycosylation Cole-Carpenter syndrome 1, 2 Congenital myopathy 22A, classic Congenital myopathy 22B, severe fetal Cornelia de Lange syndrome 1 Craniosynostosis...

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...

"MEGF8-related Carpenter syndrome (Concept Id: C3554247)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02. "RAB23-related Carpenter syndrome (Concept Id: C4551510)"...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

Currently, researchers have found MEGF8 SNP mutations to be the cause of Carpenter syndrome subtype 2. A fairly highly conserved protein, MEGF8 has conserved...

hypothyroidism Noonan syndrome 3 RAB23-related Carpenter syndrome Syndactyly type 1 (Chromosome 2q35 Duplication Syndrome) Tatton-Brown–Rahman syndrome TCF12-related...

Prader–Willi syndrome, Bardet–Biedl syndrome, Alström syndrome, Cohen syndrome, and Carpenter syndrome. Excess adipose tissue can lead to medical problems;...

Pagon–Bird–Detter syndrome Pagon–Stephan syndrome Pai–Levkoff syndrome Palant cleft palate syndrome Palindromic rheumatism Pallister–Hall syndrome Pallister–Killian...

Saul–Wilkes–Stevenson syndrome Say–Barber–Hobbs syndrome Say–Barber–Miller syndrome Say–Carpenter–syndrome Say–Field–Coldwell syndrome Say–Meyer syndrome Scabies Scab...

significant. These diseases include: acrocallosal syndrome, carpenter syndrome, and Gorlin syndrome. The main treatment is surgery to fix the abnormalities...

with the presence of other genetic disorders. It is a hallmark of Carpenter's syndrome, an autosomal recessive disorder that is also associated with craniosynostosis...

dysostosis-microcephaly syndrome MEGF8-related Carpenter syndrome Microcephaly, primary autosomal dominant Mucolipidosis type II Orofaciodigital syndrome type 14 Paris-Trousseau...

tunnel syndrome Carpenter syndrome Carpenter–Hunter type Carpo tarsal osteolysis recessive Carpotarsal osteochondromatosis Carrington syndrome Cartilage...

retardation like Alpha-thalassemia/mental retardation syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, and spastic paraplegia. It is possible that patients...