Biomaterial Database

Craniosynostosis in the Ullrich-Turner syndrome. 1990

M M Cohen

UI	MeSH Term	Description	Entries
D009634	Noonan Syndrome	A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.	Male Turner Syndrome,Turner Syndrome, Male,Familial Turner Syndrome,Female Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan-Ehmke Syndrome,Pseudo-Ullrich-Turner Syndrome,Turner Phenotype with Normal Karyotype,Turner's Phenotype, Karyotype Normal,Turner's Syndrome, Male,Turner-Like Syndrome,Ullrich-Noonan Syndrome,Female Pseudo Turner Syndrome,Male Turner's Syndrome,Noonan Ehmke Syndrome,Pseudo Ullrich Turner Syndrome,Pseudo-Turner Syndrome, Female,Turner Like Syndrome,Turner Syndrome, Familial,Ullrich Noonan Syndrome
D003398	Craniosynostoses	Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.	Acrocephaly,Oxycephaly,Brachycephaly,Craniostenosis,Craniosynostosis,Craniosynostosis, Lambdoidal,Craniosynostosis, Type 1,Lambdoid Synostosis,Metopic Synostosis,Plagiocephaly, Craniosynostosis,Plagiocephaly, Synostotic,Sagittal Synostosis,Scaphocephaly,Synostotic Anterior Plagiocephaly,Synostotic Posterior Plagiocephaly,Trigonocephaly,Unilateral Coronal Synostosis,1 Craniosynostoses, Type,1 Craniosynostosis, Type,Anterior Plagiocephaly, Synostotic,Coronal Synostoses, Unilateral,Coronal Synostosis, Unilateral,Craniostenoses,Craniosynostose,Craniosynostoses, Lambdoidal,Craniosynostoses, Type 1,Craniosynostosis Plagiocephaly,Lambdoid Synostoses,Lambdoidal Craniosynostoses,Lambdoidal Craniosynostosis,Metopic Synostoses,Plagiocephaly, Synostotic Anterior,Plagiocephaly, Synostotic Posterior,Posterior Plagiocephaly, Synostotic,Sagittal Synostoses,Synostoses, Lambdoid,Synostoses, Metopic,Synostoses, Sagittal,Synostoses, Unilateral Coronal,Synostosis, Lambdoid,Synostosis, Metopic,Synostosis, Sagittal,Synostosis, Unilateral Coronal,Synostotic Plagiocephaly,Type 1 Craniosynostoses,Type 1 Craniosynostosis,Unilateral Coronal Synostoses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000782	Aneuploidy	The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).	Aneuploid,Aneuploid Cell,Aneuploid Cells,Aneuploidies,Aneuploids,Cell, Aneuploid,Cells, Aneuploid