Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We are reporting on a 4-generation family in which 6 individuals had frontonasal dysplasia with variable extracranial abnormalities. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Associated abnormalities included cleft lip and palate (1/6), webbed neck (2/6), Sprengel anomaly (2/6), pseudoarthrosis of the clavicle (2/6), pectus excavatum (3/6), narrow, sloping shoulders (3/6), diaphragmatic hernia (2/6), broad first toe (4/6), brachydactyly (3/6), fifth finger clinodactyly (5/6), longitudinal grooves of nails (5/6), shawl scrotum (2/3 males), first degree hypospadias (1/3), and mild mental retardation (1/6). Only one affected female had brachycephaly and right coronal synostosis. Four other affected relatives had varying degrees of facial asymmetry, but normal skull contour. No male to male transmission is observed, and both daughters of an affected male were affected. Based on the phenotype of the 3 affected females, craniofrontonasal syndrome (CFNS) is the likely diagnosis. However, there are 3 affected males in this kindred, and 2 of the 3 had significant anomalies. Affected males also had genital abnormalities and pectus deformity of the chest, not previously reported in this condition. Two of the 3 males have posterolateral diaphragmatic hernia. This family expands the phenotype of affected males.
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PMID:Delineation of the male phenotype in carniofrontonasal syndrome. 363 Nov 34

Teebi (1987) described an autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia. Here we present a 2 year 5 month old girl with Teebi syndrome showing a prominent forehead, hypertelorism, mild exophthalmos, downslanting palpebral fissures, a depressed nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, an everted lower lip, a small chin, low-set ears, preauricular fistulas, a short neck, mild pectus excavatum, an umbilical hernia, clinodactyly of the 5th fingers with mild radial deviation of the distal phalanges of the middle fingers, mild pes adductus, an ectopic kidney, and normal psychomotor development. Her mother and her grandmother had similar features.
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PMID:Teebi hypertelorism syndrome. 1456 58

Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been identified in the EFNB1 gene that encodes a member of the ephrin-B family of transmembrane ligands for Eph receptor tyrosine kinases. Here, we describe two unrelated families, in both of which a mother and her son have proven mutations in EFNB1. The mothers have classical features of CFNS; although the sons have no major craniofacial features other than telecanthus, both had a congenital diaphragmatic hernia (CDH). Our cases represent the first in which CDH has been confirmed in males with mutations in EFNB1, highlighting an important role for signalling by ephrin-B1 in the development of the diaphragm.
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PMID:Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. 1663 8

Congenital diaphragmatic hernia (CDH) is a common birth defect with a high pre- and postnatal mortality. Although the majority of diaphragmatic hernias occur as isolated malformations, additional major and minor anomalies are common and are present in more than 40% of patients. There are compelling data for the importance of genetic factors in the etiology of CDH, but the pathogenesis and the causative genes for CDH in humans remain elusive. There are more than 70 syndromes in which diaphragmatic hernias have been described, and several of these syndromes are single gene disorders for which the gene is known. One method for identifying the causative genes in isolated CDH is to study syndromes with known genes in which CDH is a recognized feature, with the rationale that those genes have a role in diaphragm development. This review discusses the syndromes that are most commonly associated with CDH, with greater attention towards syndromes in which the causative genes have been identified, including Simpson-Golabi-Behmel syndrome, Denys-Drash syndrome, spondylocostal dysostosis, craniofrontonasal syndrome, Cornelia de Lange syndrome and Marfan syndrome.
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PMID:Single gene disorders associated with congenital diaphragmatic hernia. 1743

We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of EFNB1 predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated.
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PMID:A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 2073 37

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the EFNB1 mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, uterus didelphys and ocular melanocytosis observed in our patient are proposed also as a previously unreported EFNB1-related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity.
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PMID:Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 3202 98