SHORT syndrome
- Synonyms
- LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE; SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY; Stature, Hyperextensibility of joints or Hernia (inguinal), Ocular depression, Rieger anomaly and Teething delay
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
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:
- A Micheil Innes
- David A Dyment
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Delayed eruption of teeth
Delayed eruption of teeth
- MedGen UID: 68678
- Concept ID: C0239174
- Finding: Finding
Abnormality of head or neck
- Dental malocclusion
Dental malocclusion
- MedGen UID: 9869
- Concept ID: C0024636
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Dimple chin
Dimple chin
- MedGen UID: 1370532
- Concept ID: C4317152
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Downturned corners of mouth
Downturned corners of mouth
- MedGen UID: 356471
- Concept ID: C1866195
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical 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
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Short chin
Short chin
- MedGen UID: 784514
- Concept ID: C3697248
- Finding: Finding
Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Underdeveloped nasal alae
Underdeveloped nasal alae
- MedGen UID: 322332
- Concept ID: C1834055
- Finding: Congenital Abnormality
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Delayed eruption of teeth
- Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Radial deviation of finger
Radial deviation of finger
- MedGen UID: 322852
- Concept ID: C1836189
- Finding: Finding
Abnormality of limbs
- Clinodactyly
- Abnormality of metabolism/homeostasis
- Glucose intolerance
Glucose intolerance
- MedGen UID: 75760
- Concept ID: C0271650
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperglycemia
Hyperglycemia
- MedGen UID: 5689
- Concept ID: C0020456
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Insulin resistance
Insulin resistance
- MedGen UID: 43904
- Concept ID: C0021655
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus
- MedGen UID: 163439
- Concept ID: C0854110
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Glucose intolerance
- Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypermetropia
Hypermetropia
- MedGen UID: 43780
- Concept ID: C0020490
- Finding: Disease or Syndrome
Abnormality of the eye
- Hyperopia, high
Hyperopia, high
- MedGen UID: 341009
- Concept ID: C1855925
- Finding: Finding
Abnormality of the eye
- Megalocornea
Megalocornea
- MedGen UID: 138008
- Concept ID: C0344530
- Finding: Congenital Abnormality
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Rieger anomaly
Rieger anomaly
- MedGen UID: 78558
- Concept ID: C0265341
- Finding: Disease or Syndrome
Abnormality of the eye
- Astigmatism
- Abnormality of the genitourinary system
- Ovarian cyst
Ovarian cyst
- MedGen UID: 14540
- Concept ID: C0029927
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Ovarian cyst
- Abnormality of the immune system
- Abnormality of the immune system
Abnormality of the immune system
- MedGen UID: 867388
- Concept ID: C4021753
- Finding: Pathologic Function
Abnormality of the immune system
- Abnormality of the immune system
- Abnormality of the integument
- Premature skin wrinkling
Premature skin wrinkling
- MedGen UID: 19996
- Concept ID: C0037301
- Finding: Finding
Abnormality of the integument
- Prominent superficial veins
Prominent superficial veins
- MedGen UID: 324870
- Concept ID: C1837785
- Finding: Finding
Abnormality of the integument
- Thin skin
Thin skin
- MedGen UID: 140848
- Concept ID: C0423757
- Finding: Finding
Abnormality of the integument
- Premature skin wrinkling
- Abnormality of the musculoskeletal system
- Absence of subcutaneous fat
Absence of subcutaneous fat
- MedGen UID: 69138
- Concept ID: C0241267
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Enlarged epiphyses
Enlarged epiphyses
- MedGen UID: 318846
- Concept ID: C1833328
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Lipoatrophy
Lipoatrophy
- MedGen UID: 488959
- Concept ID: C1280433
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
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
- Slender long bone
Slender long bone
- MedGen UID: 331446
- Concept ID: C1833144
- Finding: Finding
Abnormality of the musculoskeletal system
- Absence of subcutaneous fat
- Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Delayed speech and language development
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
- Growth abnormality
- Birth length less than 3rd percentile
Birth length less than 3rd percentile
- MedGen UID: 340924
- Concept ID: C1855650
- Finding: Finding
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Birth length less than 3rd percentile
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.