Seckel syndrome 5
Summary
Available tests
Clinical tests (39 available)
Clinical features
Help- Abnormality of head or neck
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Convex nasal ridge
Convex nasal ridge
- MedGen UID: 66809
- Concept ID: C0240538
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Enamel hypoplasia
Enamel hypoplasia
- MedGen UID: 3730
- Concept ID: C0011351
- Finding: Disease or Syndrome
Abnormality of head or neck
- Facial asymmetry
Facial asymmetry
- MedGen UID: 266298
- Concept ID: C1306710
- 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
- Oligodontia
Oligodontia
- MedGen UID: 904670
- Concept ID: C4082304
- Finding: Congenital 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 nasal bridge
Prominent nasal bridge
- MedGen UID: 343051
- Concept ID: C1854113
- Finding: Finding
Abnormality of head or neck
- Selective tooth agenesis
Selective tooth agenesis
- MedGen UID: 370882
- Concept ID: C1970308
- Finding: Congenital Abnormality
Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Blepharophimosis
- 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
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short middle phalanx of finger
Short middle phalanx of finger
- MedGen UID: 337690
- Concept ID: C1846950
- Finding: Finding
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
- Abnormality of the genitourinary system
- Clitoral hypertrophy
Clitoral hypertrophy
- MedGen UID: 57848
- Concept ID: C0156394
- Finding: Finding
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Clitoral hypertrophy
- Abnormality of the musculoskeletal system
- 11 pairs of ribs
11 pairs of ribs
- MedGen UID: 326950
- Concept ID: C1839731
- 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
- 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
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- 11 pairs of ribs
- Abnormality of the nervous system
- Abnormal cortical gyration
Abnormal cortical gyration
- MedGen UID: 343457
- Concept ID: C1856019
- Finding: Anatomical Abnormality
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
- Simplified gyral pattern
Simplified gyral pattern
- MedGen UID: 413664
- Concept ID: C2749675
- Finding: Finding
Abnormality of the nervous system
- Abnormal cortical gyration
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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