Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- Synonyms
- Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (7 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
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Downslanted palpebral fissures
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Dislocated radial head
Dislocated radial head
- MedGen UID: 488814
- Concept ID: C0265563
- 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
- Rhizomelia
Rhizomelia
- MedGen UID: 357122
- Concept ID: C1866730
- Finding: Congenital Abnormality
Abnormality of limbs
- Short humerus
Short humerus
- MedGen UID: 316907
- Concept ID: C1832117
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubfoot
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Deeply set eye
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the integument
- Preauricular pit
Preauricular pit
- MedGen UID: 120587
- Concept ID: C0266610
- Finding: Congenital Abnormality
Abnormality of the integument
- Preauricular pit
- Abnormality of the musculoskeletal system
- Delayed ossification of pubic rami
Delayed ossification of pubic rami
- MedGen UID: 400748
- Concept ID: C1865363
- Finding: Finding
Abnormality of the musculoskeletal system
- Flared metaphysis
Flared metaphysis
- MedGen UID: 337976
- Concept ID: C1850135
- Finding: Finding
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Hypoplastic scapulae
Hypoplastic scapulae
- MedGen UID: 337579
- Concept ID: C1846434
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint contracture
Joint contracture
- MedGen UID: 3228
- Concept ID: C0009918
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Lumbar hyperlordosis
Lumbar hyperlordosis
- MedGen UID: 263149
- Concept ID: C1184923
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
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
- Narrow greater sciatic notch
Narrow greater sciatic notch
- MedGen UID: 154353
- Concept ID: C0566888
- Finding: Finding
Abnormality of the musculoskeletal system
- Scapulohumeral synostosis
Scapulohumeral synostosis
- MedGen UID: 356260
- Concept ID: C1865362
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed ossification of pubic rami
- 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
- Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Neonatal respiratory distress
- Ear malformation
- Atresia of the external auditory canal
Atresia of the external auditory canal
- MedGen UID: 78613
- Concept ID: C0266597
- Finding: Congenital Abnormality
Ear malformation
- Conductive hearing impairment
Conductive hearing impairment
- MedGen UID: 9163
- Concept ID: C0018777
- Finding: Disease or Syndrome
Ear malformation
- Simple ear
Simple ear
- MedGen UID: 140913
- Concept ID: C0431483
- Finding: Congenital Abnormality
Ear malformation
- Atresia of the external auditory canal
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- 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.