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Items: 18

1.

Craniosynostosis, nonsyndromic unicoronal

MedGen UID:
864783
Concept ID:
C4016346
Finding
2.

Pfeiffer syndrome, type III

MedGen UID:
864782
Concept ID:
C4016345
Finding
3.

PFEIFFER SYNDROME VARIANT

MedGen UID:
864781
Concept ID:
C4016344
Finding
4.

Bent bone dysplasia syndrome

MedGen UID:
482877
Concept ID:
C3281247
Disease or Syndrome
5.

Craniofacial dysostosis type 1

MedGen UID:
443999
Concept ID:
C2931196
Congenital Abnormality; Disease or Syndrome
6.

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
7.

Craniosynostosis, nonclassifiable autosomal dominant

MedGen UID:
401257
Concept ID:
C1867563
Finding; Gene or Genome
8.

ENDOMETRIAL CANCER, SOMATIC

MedGen UID:
382330
Concept ID:
C2674314
Finding; Gene or Genome
9.

Cutis Gyrata syndrome of Beare and Stevenson

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
377668
Concept ID:
C1852406
Congenital Abnormality; Disease or Syndrome
10.

Scaphocephaly and axenfeld-rieger anomaly

MedGen UID:
358016
Concept ID:
C1867564
Finding; Gene or Genome
11.

Scaphocephaly, maxillary retrusion, and mental retardation

MedGen UID:
355365
Concept ID:
C1865070
Disease or Syndrome
12.

Pfeiffer syndrome

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
350148
Concept ID:
C1863356
Disease or Syndrome
13.

GASTRIC CANCER, SOMATIC

MedGen UID:
348760
Concept ID:
C1860985
Gene or Genome; Neoplastic Process
14.

Jackson-Weiss syndrome

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
208653
Concept ID:
C0795998
Disease or Syndrome
15.

Levy-Hollister syndrome

Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). [from OMIM]

MedGen UID:
78545
Concept ID:
C0265269
Congenital Abnormality; Disease or Syndrome
16.

Craniofacial-skeletal-dermatologic dysplasia

An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. [from NCI]

MedGen UID:
67390
Concept ID:
C0220658
Congenital Abnormality; Disease or Syndrome
17.

Saethre-Chotzen syndrome

Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unilateral coronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus). Syndactyly of digits two and three of the hand is variably present. Intelligence is usually normal, although those with large genomic deletions are more likely to have developmental delays. Less common manifestations of SCS include short stature, parietal foramina, vertebral fusions, radioulnar synostosis, cleft palate, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated distal hallucal phalanx, and congenital heart malformations. [from GeneReviews]

MedGen UID:
64221
Concept ID:
C0175699
Congenital Abnormality; Disease or Syndrome
18.

Acrocephalosyndactyly type I

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
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