Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
- Synonyms
- COMMAD syndrome
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (29 available)
Clinical features
Help- Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Congenital ocular coloboma
Congenital ocular coloboma
- MedGen UID: 1046
- Concept ID: C0009363
- Finding: Congenital Abnormality
Abnormality of the eye
- Iris transillumination defect
Iris transillumination defect
- MedGen UID: 786045
- Concept ID: C1096099
- 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
- Cataract
- Abnormality of the integument
- Generalized hypopigmentation
Generalized hypopigmentation
- MedGen UID: 340426
- Concept ID: C1849923
- Finding: Finding
Abnormality of the integument
- Preauricular pit
Preauricular pit
- MedGen UID: 120587
- Concept ID: C0266610
- Finding: Congenital Abnormality
Abnormality of the integument
- Generalized hypopigmentation
- Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased bone mineral density
Increased bone mineral density
- MedGen UID: 10502
- Concept ID: C0029464
- Finding: Disease or Syndrome
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
- Osteopetrosis
Osteopetrosis
- MedGen UID: 18223
- Concept ID: C0029454
- Finding: Finding
Abnormality of the musculoskeletal system
- Relative macrocephaly
Relative macrocephaly
- MedGen UID: 338607
- Concept ID: C1849075
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Shallow orbits
Shallow orbits
- MedGen UID: 351328
- Concept ID: C1865244
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
- Abnormality of the nervous system
- Cavum septum pellucidum
Cavum septum pellucidum
- MedGen UID: 327087
- Concept ID: C1840380
- Finding: Finding
Abnormality of the nervous system
- Cavum septum pellucidum
- Ear malformation
- Congenital sensorineural hearing impairment
Congenital sensorineural hearing impairment
- MedGen UID: 356101
- Concept ID: C1865866
- Finding: Disease or Syndrome
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Congenital sensorineural hearing impairment
- Growth abnormality
- Decreased body weight
Decreased body weight
- MedGen UID: 1806755
- Concept ID: C5574742
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Decreased body weight
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