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Items: 10

1.

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Cytochrome P450 oxidoreductase (POR) deficiency is a disorder of steroidogenesis with a phenotypic spectrum ranging from cortisol deficiency at the milder end to classic Antley-Bixler syndrome (ABS) at the severe end. Cortisol deficiency can range from clinically insignificant to life threatening; manifestations can include ambiguous genitalia in both males and females; primary amenorrhea and enlarged cystic ovaries in females; poor masculinization during puberty in males; and maternal virilization during pregnancy with an affected fetus. Manifestations of ABS include craniosynostosis; hydrocephalus; distinctive facies; choanal stenosis or atresia; low-set dysplastic ears with stenotic external auditory canals; skeletal anomalies (radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, clubfeet); renal anomalies (ectopic kidneys, duplication of the kidneys, renal hypoplasia, horseshoe kidney, hydronephrosis); and reduction of cognitive function and developmental delay. In moderate POR deficiency, craniofacial and skeletal anomalies are less severe than in ABS. [from GeneReviews]

MedGen UID:
422448
Concept ID:
C2936791
Congenital Abnormality; Disease or Syndrome
2.

Antley-Bixler syndrome

MedGen UID:
75561
Concept ID:
C0265307
Congenital Abnormality; Disease or Syndrome
3.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
4.

Amenorrhea

Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. [from HPO]

MedGen UID:
504362
Concept ID:
CN000137
Finding
5.

Constricting bands, congenital

MedGen UID:
66322
Concept ID:
C0220724
Congenital Abnormality; Disease or Syndrome
6.

Brachycephaly

An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. [from HPO]

MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality; Disease or Syndrome
7.

Turricephaly

Premature closing of the lambdoid and coronal sutures. [from MeSH]

MedGen UID:
10522
Concept ID:
C0030044
Congenital Abnormality; Disease or Syndrome
8.

Craniosynostosis syndrome

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. [from MeSH]

MedGen UID:
1163
Concept ID:
C0010278
Congenital Abnormality; Disease or Syndrome
9.

Multiple synostoses syndrome 3

MedGen UID:
414116
Concept ID:
C2751826
Disease or Syndrome
10.

Craniosynostosis 3

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013). For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from OMIM]

MedGen UID:
811568
Concept ID:
C3715051
Disease or Syndrome
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