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Oto-palato-digital syndrome, type I(OPD1)

MedGen UID:
78542
Concept ID:
C0265251
Disease or Syndrome
Synonyms: OPD I SYNDROME; OPD syndrome; OPD SYNDROME 1; OPD1; Oto-palato-digital syndrome type 1; Otopalatodigital Syndrome, Type I; Taybi syndrome
SNOMED CT: Oto-palato-digital syndrome, type I (54036001); Taybi syndrome (54036001)
Modes of inheritance:
 
FLNA (Xq28)
 
Monarch Initiative: MONDO:0010704
OMIM®: 311300
Orphanet: ORPHA90650
Authors:

Additional descriptions

From OMIM
Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1; 305620), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'  http://www.omim.org/entry/311300
From MedlinePlus Genetics
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits).

Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a broad, flat nose. Affected individuals have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; unusually long second toes; and a wide gap between the first and second toes (known as a sandal gap). Affected individuals also have hearing loss.

Infants with otopalatodigital syndrome type 1 may be born with an opening in the roof of the mouth (a cleft palate). Individuals with this condition often have fewer teeth than normal (hypodontia). They may have mild abnormal curvature (bowing) of their limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family.

Females with otopalatodigital syndrome type 1 often have more variable signs and symptoms compared to affected males, with females typically having fewer signs and symptoms.  https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Kusajima EG, Maeda T, Murao N, Funayama E, Yamamoto Y
Congenit Anom (Kyoto) 2021 May;61(3):103-104. Epub 2021 Feb 14 doi: 10.1111/cga.12409. PMID: 33476089
Biancalana V, Le Marec B, Odent S, van den Hurk JA, Hanauer A
Hum Genet 1991 Dec;88(2):228-30. doi: 10.1007/BF00206078. PMID: 1757098

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