Marbach-Rustad progeroid syndrome
Summary
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Convex nasal ridge
Convex nasal ridge
- MedGen UID: 66809
- Concept ID: C0240538
- Finding: Finding
Abnormality of head or neck
- Delayed eruption of primary teeth
Delayed eruption of primary teeth
- MedGen UID: 341477
- Concept ID: C1849538
- Finding: Finding
Abnormality of head or neck
- Eruption failure
Eruption failure
- MedGen UID: 11856
- Concept ID: C0040458
- Finding: Finding
Abnormality of head or neck
- Large forehead
Large forehead
- MedGen UID: 326962
- Concept ID: C1839783
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Convex nasal ridge
- Abnormality of metabolism/homeostasis
- Insulin resistance
Insulin resistance
- MedGen UID: 43904
- Concept ID: C0021655
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Insulin resistance
- Abnormality of prenatal development or birth
- Premature rupture of membranes
Premature rupture of membranes
- MedGen UID: 8826
- Concept ID: C0015944
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Premature rupture of membranes
- Abnormality of the cardiovascular system
- Pulmonary valve insufficiency
Pulmonary valve insufficiency
- MedGen UID: 11031
- Concept ID: C0034088
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Right bundle branch block
Right bundle branch block
- MedGen UID: 88445
- Concept ID: C0085615
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular septal hypertrophy
Ventricular septal hypertrophy
- MedGen UID: 138013
- Concept ID: C0344955
- Finding: Finding
Abnormality of the cardiovascular system
- Pulmonary valve insufficiency
- Abnormality of the digestive system
- Poor appetite
Poor appetite
- MedGen UID: 68562
- Concept ID: C0232462
- Finding: Sign or Symptom
Abnormality of the digestive system
- Poor appetite
- Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Proptosis
- Abnormality of the integument
- Prominent superficial veins
Prominent superficial veins
- MedGen UID: 324870
- Concept ID: C1837785
- Finding: Finding
Abnormality of the integument
- Prominent superficial veins
- Abnormality of the musculoskeletal system
- Femur fracture
Femur fracture
- MedGen UID: 4676
- Concept ID: C0015802
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Reduced bone mineral density
Reduced bone mineral density
- MedGen UID: 393152
- Concept ID: C2674432
- Finding: Finding
Abnormality of the musculoskeletal system
- Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
- MedGen UID: 387876
- Concept ID: C1857657
- Finding: Finding
Abnormality of the musculoskeletal system
- Shallow orbits
Shallow orbits
- MedGen UID: 351328
- Concept ID: C1865244
- Finding: Finding
Abnormality of the musculoskeletal system
- Short clavicles
Short clavicles
- MedGen UID: 96529
- Concept ID: C0426799
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Wormian bones
Wormian bones
- MedGen UID: 766814
- Concept ID: C3553900
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Femur fracture
- Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI
- MedGen UID: 811125
- Concept ID: C2938912
- Finding: Pathologic Function
Abnormality of the nervous system
- Intention tremor
Intention tremor
- MedGen UID: 1642960
- Concept ID: C4551520
- Finding: Sign or Symptom
Abnormality of the nervous system
- CNS hypomyelination
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Fetal growth restriction
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.