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Prominent interphalangeal joints

MedGen UID:
395181
Concept ID:
C1859115
Finding
Synonym: Prominent hinge joints
 
HPO: HP:0006237

Term Hierarchy

Conditions with this feature

Nicolaides-Baraitser syndrome
MedGen UID:
220983
Concept ID:
C1303073
Disease or Syndrome
Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills.
Coffin-Siris syndrome 1
MedGen UID:
482831
Concept ID:
C3281201
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
Intellectual disability, autosomal dominant 16
MedGen UID:
766163
Concept ID:
C3553249
Disease or Syndrome
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Turnpenny-fry syndrome
MedGen UID:
1683283
Concept ID:
C5193060
Disease or Syndrome
Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).
Otospondylomegaepiphyseal dysplasia, autosomal recessive
MedGen UID:
1790497
Concept ID:
C5551484
Disease or Syndrome
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).
Intellectual developmental disorder, autosomal dominant 73
MedGen UID:
1841272
Concept ID:
C5830636
Mental or Behavioral Dysfunction
Autosomal dominant intellectual developmental disorder-73 (MRD73) is a highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features (Janssen et al., 2022).

Professional guidelines

PubMed

Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):302-14. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31409. PMID: 25169058

Recent clinical studies

Etiology

Zhang X, Chen H, Song Y, Chen Z, Liu X, Rong P, Ma R
Mol Genet Genomic Med 2022 Sep;10(9):e2009. Epub 2022 Jul 10 doi: 10.1002/mgg3.2009. PMID: 35811451Free PMC Article
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):302-14. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31409. PMID: 25169058

Diagnosis

Zhang X, Chen H, Song Y, Chen Z, Liu X, Rong P, Ma R
Mol Genet Genomic Med 2022 Sep;10(9):e2009. Epub 2022 Jul 10 doi: 10.1002/mgg3.2009. PMID: 35811451Free PMC Article
Foley R, Duignan S, McArdle L, Betts DR, Green A, McMahon CJ
Cardiol Young 2022 May;32(5):821-823. Epub 2021 Sep 15 doi: 10.1017/S1047951121003826. PMID: 34521483
Abdel-Salam GMH, Abdel-Hamid MS, Sayed ISM, Zechner U, Bolz HJ
J Hum Genet 2022 Jan;67(1):55-64. Epub 2021 Aug 5 doi: 10.1038/s10038-021-00966-2. PMID: 34354232
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):302-14. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31409. PMID: 25169058

Prognosis

Zhang X, Chen H, Song Y, Chen Z, Liu X, Rong P, Ma R
Mol Genet Genomic Med 2022 Sep;10(9):e2009. Epub 2022 Jul 10 doi: 10.1002/mgg3.2009. PMID: 35811451Free PMC Article

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