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Onychotrichodysplasia and neutropenia

MedGen UID:
340512
Concept ID:
C1850316
Disease or Syndrome
Synonym: Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome
 
Monarch Initiative: MONDO:0009781
OMIM®: 258360
Orphanet: ORPHA2739

Clinical features

From HPO
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Lymphocytosis
MedGen UID:
9834
Concept ID:
C0024282
Disease or Syndrome
Increase in the number or proportion of lymphocytes in the blood.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Chronic neutropenia
MedGen UID:
1671095
Concept ID:
C0746882
Disease or Syndrome
Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Chronic irritative conjunctivitis
MedGen UID:
870366
Concept ID:
C4024810
Disease or Syndrome
A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.
Concave nail
MedGen UID:
66369
Concept ID:
C0221261
Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Trichorrhexis nodosa
MedGen UID:
82668
Concept ID:
C0263485
Disease or Syndrome
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
Curly hair
MedGen UID:
488919
Concept ID:
C0558165
Finding
Hypoplastic fingernail
MedGen UID:
347304
Concept ID:
C1856786
Finding
Underdevelopment of a fingernail.
Sparse pubic hair
MedGen UID:
388095
Concept ID:
C1858573
Finding
Reduced number or density of pubic hair.
Curly eyelashes
MedGen UID:
382159
Concept ID:
C2673670
Finding
Abnormally curly or curved eyelashes.
Short eyelashes
MedGen UID:
411272
Concept ID:
C2748682
Finding
Decreased length of the eyelashes (subjective).

Recent clinical studies

Diagnosis

Ikbal M, Eker HK, Tos T, Alp MY, Cebi AH
Genet Couns 2012;23(3):389-92. PMID: 23072187

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