Stromme syndrome
- Synonyms
- APPLE PEEL SYNDROME WITH MICROCEPHALY AND OCULAR ANOMALIES; Ciliary dyskinesia, primary, 31
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:
- Stephanie KL Ho
- Lai Ting Leung
- Ho-ming Luk
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (24 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
- Prominent nasal bridge
Prominent nasal bridge
- MedGen UID: 343051
- Concept ID: C1854113
- Finding: Finding
Abnormality of head or neck
- Short columella
Short columella
- MedGen UID: 341783
- Concept ID: C1857479
- Finding: Finding
Abnormality of head or neck
- Wide mouth
Wide mouth
- MedGen UID: 44238
- Concept ID: C0024433
- 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
- Cleft palate
- Abnormality of limbs
- Preaxial polydactyly
Preaxial polydactyly
- MedGen UID: 87498
- Concept ID: C0345354
- Finding: Congenital Abnormality
Abnormality of limbs
- Preaxial polydactyly
- Abnormality of the digestive system
- Duodenal atresia
Duodenal atresia
- MedGen UID: 75602
- Concept ID: C0266174
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Intestinal malrotation
Intestinal malrotation
- MedGen UID: 113153
- Concept ID: C0221210
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Jejunal atresia
Jejunal atresia
- MedGen UID: 75603
- Concept ID: C0266175
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Duodenal atresia
- Abnormality of the ear
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Abnormality of the ear
- Low-set ears
- 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
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Irido-corneo-trabecular dysgenesis
Irido-corneo-trabecular dysgenesis
- MedGen UID: 91031
- Concept ID: C0344559
- Finding: Congenital Abnormality
Abnormality of the eye
- Iris coloboma
Iris coloboma
- MedGen UID: 116097
- Concept ID: C0240063
- Finding: Anatomical Abnormality
Abnormality of the eye
- Microcornea
Microcornea
- MedGen UID: 78610
- Concept ID: C0266544
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Optic nerve hypoplasia
Optic nerve hypoplasia
- MedGen UID: 137901
- Concept ID: C0338502
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal vascular tortuosity
Retinal vascular tortuosity
- MedGen UID: 349827
- Concept ID: C1860475
- Finding: Anatomical Abnormality
Abnormality of the eye
- Sclerocornea
Sclerocornea
- MedGen UID: 344000
- Concept ID: C1853235
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Bilateral renal hypoplasia
Bilateral renal hypoplasia
- MedGen UID: 609099
- Concept ID: C0431692
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Bilateral renal hypoplasia
- Abnormality of the immune system
- Accessory spleen
Accessory spleen
- MedGen UID: 75619
- Concept ID: C0266631
- Finding: Congenital Abnormality
Abnormality of the immune system
- Accessory spleen
- 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
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
- MedGen UID: 333548
- Concept ID: C1840379
- Finding: Finding
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar hypoplasia
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