Grebe syndrome
- Synonyms
- ACROMESOMELIC DYSPLASIA 2A; Acromesomelic dysplasia, Grebe type; Brazilian achondrogenesis; Chondrodysplasia, Grebe Type; Grebe dysplasia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (24 available)
Clinical features
Help- Abnormality of limbs
- Acromesomelia
Acromesomelia
- MedGen UID: 350410
- Concept ID: C1864365
- Finding: Finding
Abnormality of limbs
- Aplasia/Hypoplasia involving the metacarpal bones
Aplasia/Hypoplasia involving the metacarpal bones
- MedGen UID: 322855
- Concept ID: C1836192
- Finding: Finding
Abnormality of limbs
- Aplasia/Hypoplasia of metatarsal bones
Aplasia/Hypoplasia of metatarsal bones
- MedGen UID: 348560
- Concept ID: C1860182
- Finding: Finding
Abnormality of limbs
- Distal tibiofibular synostosis
Distal tibiofibular synostosis
- MedGen UID: 1052766
- Concept ID: CN377482
- Finding: Finding
Abnormality of limbs
- Fibular hypoplasia
Fibular hypoplasia
- MedGen UID: 316909
- Concept ID: C1832119
- Finding: Finding
Abnormality of limbs
- Hypoplasia of the radius
Hypoplasia of the radius
- MedGen UID: 672334
- Concept ID: C0685381
- Finding: Congenital Abnormality
Abnormality of limbs
- Hypoplasia of the ulna
Hypoplasia of the ulna
- MedGen UID: 395934
- Concept ID: C1860614
- Finding: Congenital Abnormality
Abnormality of limbs
- Patella aplasia/hypoplasia
Patella aplasia/hypoplasia
- MedGen UID: 358246
- Concept ID: C1868577
- Finding: Finding
Abnormality of limbs
- Pes valgus
Pes valgus
- MedGen UID: 299028
- Concept ID: C1578482
- Finding: Anatomical Abnormality
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Short digit
Short digit
- MedGen UID: 893063
- Concept ID: C4023124
- Finding: Finding
Abnormality of limbs
- Short femur
Short femur
- MedGen UID: 87499
- Concept ID: C0345375
- Finding: Congenital Abnormality
Abnormality of limbs
- Short foot
Short foot
- MedGen UID: 376415
- Concept ID: C1848673
- Finding: Finding
Abnormality of limbs
- Short humerus
Short humerus
- MedGen UID: 316907
- Concept ID: C1832117
- Finding: Congenital Abnormality
Abnormality of limbs
- Short phalanx of finger
Short phalanx of finger
- MedGen UID: 163753
- Concept ID: C0877165
- Finding: Finding
Abnormality of limbs
- Short tibia
Short tibia
- MedGen UID: 338005
- Concept ID: C1850259
- Finding: Finding
Abnormality of limbs
- Valgus hand deformity
Valgus hand deformity
- MedGen UID: 348042
- Concept ID: C1860179
- Finding: Finding
Abnormality of limbs
- Acromesomelia
- Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Flexion contracture
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
- Growth abnormality
- Disproportionate short-limb short stature
Disproportionate short-limb short stature
- MedGen UID: 342370
- Concept ID: C1849937
- Finding: Finding
Growth abnormality
- Disproportionate short-limb short 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.