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Aplasia/Hypoplasia of the eyebrow

MedGen UID:
892938
Concept ID:
C4021956
Finding
Synonyms: Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow; Sparse or absent eyebrows; Sparse to absent eyebrows; Sparse/absent eyebrows
 
HPO: HP:0100840

Definition

Absence or underdevelopment of the eyebrow. [from HPO]

Conditions with this feature

Short-rib thoracic dysplasia 7 with or without polydactyly
MedGen UID:
481422
Concept ID:
C3279792
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Ectodermal dysplasia 8, hair/tooth/nail type
MedGen UID:
764338
Concept ID:
C3551424
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails.
Hypotrichosis 11
MedGen UID:
767323
Concept ID:
C3554409
Disease or Syndrome
Hypotrichosis-11 (HYPT11) is a form of isolated alopecia characterized by diffuse and progressive loss of hair starting in childhood. Affected individuals typically present with sparse to absent scalp hair, and may have brittle or absent eyebrows and eyelashes as well as sparse body hair, without hair shaft anomalies (summary by Pan et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).
Hypotrichosis 12
MedGen UID:
863000
Concept ID:
C4014563
Disease or Syndrome
Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.
Bone marrow failure syndrome 3
MedGen UID:
934711
Concept ID:
C4310744
Disease or Syndrome
Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).
Restrictive dermopathy 1
MedGen UID:
1812447
Concept ID:
C5676878
Disease or Syndrome
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.

Recent clinical studies

Diagnosis

Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002410. PMID: 29305346Free PMC Article

Clinical prediction guides

Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002410. PMID: 29305346Free PMC Article

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