Rhizomelic limb shortening with dysmorphic features
Summary
Available tests
Clinical tests (1 available)
Clinical features
Help- Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
- Abnormality of limbs
- Clinodactyly of the 3rd finger
Clinodactyly of the 3rd finger
- MedGen UID: 868094
- Concept ID: C4022485
- Finding: Congenital Abnormality
Abnormality of limbs
- Rhizomelia
Rhizomelia
- MedGen UID: 357122
- Concept ID: C1866730
- Finding: Congenital Abnormality
Abnormality of limbs
- Short 5th finger
Short 5th finger
- MedGen UID: 334269
- Concept ID: C1842878
- Finding: Congenital Abnormality
Abnormality of limbs
- Short thumb
Short thumb
- MedGen UID: 98469
- Concept ID: C0431890
- Finding: Congenital Abnormality
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Clinodactyly of the 3rd finger
- Abnormality of the cardiovascular system
- Patent foramen ovale
Patent foramen ovale
- MedGen UID: 8891
- Concept ID: C0016522
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent foramen ovale
- Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Proptosis
- Abnormality of the genitourinary system
- Stage 1 chronic kidney disease
Stage 1 chronic kidney disease
- MedGen UID: 378390
- Concept ID: C2316401
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Stage 1 chronic kidney disease
- Abnormality of the integument
- Acanthosis nigricans
Acanthosis nigricans
- MedGen UID: 54
- Concept ID: C0000889
- Finding: Disease or Syndrome
Abnormality of the integument
- Prominent fingertip pads
Prominent fingertip pads
- MedGen UID: 322758
- Concept ID: C1835807
- Finding: Finding
Abnormality of the integument
- Acanthosis nigricans
- Abnormality of the musculoskeletal system
- Hyperextensibility of the finger joints
Hyperextensibility of the finger joints
- MedGen UID: 334982
- Concept ID: C1844577
- Finding: Finding
Abnormality of the musculoskeletal system
- Limited shoulder movement
Limited shoulder movement
- MedGen UID: 341979
- Concept ID: C1851313
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Patellar dislocation
Patellar dislocation
- MedGen UID: 253896
- Concept ID: C1135812
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Plagiocephaly
Plagiocephaly
- MedGen UID: 1825944
- Concept ID: C2081594
- Finding: Finding
Abnormality of the musculoskeletal system
- Hyperextensibility of the finger joints
- Abnormality of the nervous system
- Brisk reflexes
Brisk reflexes
- MedGen UID: 382164
- Concept ID: C2673700
- Finding: Finding
Abnormality of the nervous system
- Delayed CNS myelination
Delayed CNS myelination
- MedGen UID: 867393
- Concept ID: C4021758
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Brisk reflexes
- Abnormality of the respiratory system
- Congenital laryngomalacia
Congenital laryngomalacia
- MedGen UID: 120500
- Concept ID: C0264303
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Congenital laryngomalacia
- Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Obesity
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