Schuurs-Hoeijmakers syndrome
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:
- Laina Lusk
- Simone Smith
- Christa Martin
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (18 available)
Clinical features
Help- Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Diastema
Diastema
- MedGen UID: 3800
- Concept ID: C0011998
- 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
- Downturned corners of mouth
Downturned corners of mouth
- MedGen UID: 356471
- Concept ID: C1866195
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Highly arched eyebrow
Highly arched eyebrow
- MedGen UID: 358357
- Concept ID: C1868571
- Finding: Finding
Abnormality of head or neck
- Low anterior hairline
Low anterior hairline
- MedGen UID: 331280
- Concept ID: C1842366
- Finding: Finding
Abnormality of head or neck
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- 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
- Bulbous nose
- Abnormality of limbs
- Large hands
Large hands
- MedGen UID: 98097
- Concept ID: C0426870
- Finding: Finding
Abnormality of limbs
- Long foot
Long foot
- MedGen UID: 154365
- Concept ID: C0576225
- Finding: Finding
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Large hands
- Abnormality of prenatal development or birth
- Single umbilical artery
Single umbilical artery
- MedGen UID: 278026
- Concept ID: C1384670
- Finding: Congenital Abnormality
Abnormality of prenatal development or birth
- Single umbilical artery
- Abnormality of the breast
- Wide intermamillary distance
Wide intermamillary distance
- MedGen UID: 473489
- Concept ID: C1827524
- Finding: Finding
Abnormality of the breast
- Wide intermamillary distance
- Abnormality of the cardiovascular system
- Abnormal cardiac septum morphology
Abnormal cardiac septum morphology
- MedGen UID: 6752
- Concept ID: C0018816
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent foramen ovale
Patent foramen ovale
- MedGen UID: 8891
- Concept ID: C0016522
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormal cardiac septum morphology
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Volvulus
Volvulus
- MedGen UID: 21892
- Concept ID: C0042961
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- 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
- Long eyelashes
Long eyelashes
- MedGen UID: 342955
- Concept ID: C1853738
- Finding: Finding
Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Long eyelashes
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Cavum septum pellucidum
Cavum septum pellucidum
- MedGen UID: 327087
- Concept ID: C1840380
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
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
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
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
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Speech apraxia
Speech apraxia
- MedGen UID: 78112
- Concept ID: C0264611
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Absent speech
- 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
- Low-set ears
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