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Items: 11

1.

Ehlers-Danlos syndrome, type 4

Vascular Ehlers-Danlos Syndrome (vEDS) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, recurrent joint subluxation or dislocation, and bruising can occur. Pregnancy for women with vEDS has an estimated 5.3% risk for death from peripartum arterial rupture or uterine rupture. One fourth of individuals with vEDS, confirmed by laboratory testing, experienced a major complication by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 50 years. [from GeneReviews]

MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
2.

Glycogen storage disease, type II

Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon. [from GeneReviews]

MedGen UID:
5340
Concept ID:
C0017921
Congenital Abnormality; Disease or Syndrome
3.

Loeys-Dietz syndrome 1

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with systemic manifestations of LDSI but minimal or absent craniofacial features. LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and a high incidence of pregnancy-related complications, including death and uterine rupture. [from GeneReviews]

MedGen UID:
395828
Concept ID:
C2697933
Disease or Syndrome
4.

Polycystic kidney disease, adult type

Autosomal dominant polycystic kidney disease has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney Disease Polycystic kidney disease-2 (PKD2; 613095) is caused by mutation in the PKD2 gene (173910) on chromosome 4q22; PKD3 (600666) is caused by mutation in the GANAB gene (104160) on chromosome 11q13; and ARPKD (263200) is caused by mutation in the PKHD1 gene (606702) on chromosome 6p. [from OMIM]

MedGen UID:
88404
Concept ID:
C0085413
Congenital Abnormality; Disease or Syndrome
5.

Loeys-Dietz syndrome 2

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with systemic manifestations of LDSI but minimal or absent craniofacial features. LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and a high incidence of pregnancy-related complications, including death and uterine rupture. [from GeneReviews]

MedGen UID:
390653
Concept ID:
C2674876
Disease or Syndrome
6.

Microcephalic osteodysplastic primordial dwarfism type 2

Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010). [from OMIM]

MedGen UID:
96587
Concept ID:
C0432246
Congenital Abnormality; Disease or Syndrome
7.

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract. [from GeneReviews]

MedGen UID:
382033
Concept ID:
C2673195
Disease or Syndrome
8.

Multisystemic smooth muscle dysfunction syndrome

MedGen UID:
462551
Concept ID:
C3151201
Disease or Syndrome
9.

Aneurysm, intracranial berry, 1

Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). Genetic Heterogeneity of Intracranial Berry Aneurysm Intracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2. Other mapped loci for intracranial berry aneurysm include ANIB2 (608542) on chromosome 19q13, ANIB3 (609122) on 1p36.13-p34.3, ANIB4 (610213) on 5p15.2-14.3, ANIB5 (300870) on Xp22, ANIB6 (611892) on 9p21, ANIB7 (612161) on 11q24-q25, ANIB8 (612162) on 14q23, ANIB9 (612586) on 2q, ANIB10 (612587) on 8q, and ANIB11 (614252) on 8p22. [from OMIM]

MedGen UID:
354864
Concept ID:
C1862932
Disease or Syndrome
10.

Bone fragility with contractures, arterial rupture, and deafness

MedGen UID:
382811
Concept ID:
C2676285
Disease or Syndrome
11.

Cerebral Aneurysm

congenital or acquired abnormal outpouching of an intracranial blood vessel wall; saccular (berry) aneurysms are the most common variant, and tend to form at arterial branch points near the base of the brain; rupture results in subarachnoid hemorrhage or intracranial hemorrhages; giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the oculomotor nerve. [from CRISP]

MedGen UID:
214637
Concept ID:
C0917996
Disease or Syndrome
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