U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 10

1.

CHARGE association

CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
2.

Fryns syndrome

Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common. [from GeneReviews]

MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
3.

Yunis-Varon syndrome

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013). [from OMIM]

MedGen UID:
341818
Concept ID:
C1857663
Disease or Syndrome
4.

Joubert syndrome 18

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]

MedGen UID:
766672
Concept ID:
C3553758
Disease or Syndrome
5.

Orofaciodigital syndrome type 6

Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014). [from OMIM]

MedGen UID:
411200
Concept ID:
C2745997
Disease or Syndrome
6.

Hydrolethalus syndrome 1

Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene. [from MONDO]

MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
7.

Microgastria-limb reduction defect syndrome

A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. [from ORDO]

MedGen UID:
322532
Concept ID:
C1834929
Disease or Syndrome
8.

Fetal akinesia syndrome, X-linked

MedGen UID:
341166
Concept ID:
C1848171
Disease or Syndrome
9.

Craniotelencephalic dysplasia

Characterised by frontal encephalocoele, craniosynostosis, and developmental delay. [from SNOMEDCT_US]

MedGen UID:
347462
Concept ID:
C1857471
Disease or Syndrome
10.

Arrhinencephaly

MedGen UID:
36258
Concept ID:
C0078982
Congenital Abnormality
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Support Center