Perrault syndrome 4
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- William G Newman
- Thomas B Friedman
- Gerard S Conway
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (38 available)
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Cubitus valgus
Cubitus valgus
- MedGen UID: 490152
- Concept ID: C0158465
- Finding: Acquired Abnormality
Abnormality of limbs
- Cubitus valgus
- Abnormality of the ear
- Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment
- MedGen UID: 335894
- Concept ID: C1843156
- Finding: Disease or Syndrome
Abnormality of the ear
- Progressive sensorineural hearing impairment
- Abnormality of the endocrine system
- Decreased serum estradiol
Decreased serum estradiol
- MedGen UID: 69129
- Concept ID: C0241011
- Finding: Finding
Abnormality of the endocrine system
- Increased circulating gonadotropin level
Increased circulating gonadotropin level
- MedGen UID: 400008
- Concept ID: C1862265
- Finding: Finding
Abnormality of the endocrine system
- Decreased serum estradiol
- Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
- Abnormality of the genitourinary system
- Bicornuate uterus
Bicornuate uterus
- MedGen UID: 78599
- Concept ID: C0266387
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypoplasia of the ovary
Hypoplasia of the ovary
- MedGen UID: 672766
- Concept ID: C0685840
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Oligomenorrhea
Oligomenorrhea
- MedGen UID: 18159
- Concept ID: C0028949
- Finding: Pathologic Function
Abnormality of the genitourinary system
- Premature ovarian insufficiency
Premature ovarian insufficiency
- MedGen UID: 9963
- Concept ID: C0025322
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Secondary amenorrhea
Secondary amenorrhea
- MedGen UID: 115919
- Concept ID: C0232940
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Uterine hypoplasia
Uterine hypoplasia
- MedGen UID: 120575
- Concept ID: C0266399
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Bicornuate uterus
- Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteoporosis
- Abnormality of the nervous system
- Cognitive impairment
Cognitive impairment
- MedGen UID: 90932
- Concept ID: C0338656
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait ataxia
Gait ataxia
- MedGen UID: 155642
- Concept ID: C0751837
- Finding: Sign or Symptom
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Tarlov cyst
Tarlov cyst
- MedGen UID: 105457
- Concept ID: C0520720
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cognitive impairment
- Growth abnormality
- Disproportionate tall stature
Disproportionate tall stature
- MedGen UID: 323048
- Concept ID: C1836996
- Finding: Finding
Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Disproportionate tall stature
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.