Total 26 clinical symptoms reported for Carpenter syndrome
Abnormal skull morphology |
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Synonyms:Abnormality of the skull |
Very frequent |
Craniosynostosis |
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Synonyms:Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature fontanel closure; Premature suture closure |
Very frequent |
Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
Very frequent |
External genital hypoplasia |
Underdevelopment of part or all of the external reproductive organs.
Synonyms:Hypogenitalism; Small genitalia; Underdevelopment of external reproductive organs |
Very frequent |
Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
Obesity |
Accumulation of substantial excess body fat.
Synonyms:Having too much body fat; Obesity |
Very frequent |
Oxycephaly |
Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
|
Very frequent |
Polydactyly |
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Synonyms:More than five fingers or toes on hands or feet |
Very frequent |
Syndactyly |
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as 'bony' syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as 'symphalangism'.
Synonyms:Webbed fingers or toes |
Very frequent |