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Acrofacial dysostosis Rodriguez type

MedGen UID:
349730
Concept ID:
C1860119
Disease or Syndrome
Synonyms: ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ; Rodriguez lethal acrofacial dysostosis syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 201170
Orphanet: ORPHA1788

Clinical features

Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Triphalangeal thumb
MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Overlapping toe
MedGen UID:
182531
Concept ID:
C0920299
Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Absent forearm
MedGen UID:
278055
Concept ID:
C1408532
Finding
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Triphalangeal thumb
MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Overlapping toe
MedGen UID:
182531
Concept ID:
C0920299
Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrofacial dysostosis Rodriguez type
Follow this link to review classifications for Acrofacial dysostosis Rodriguez type in Orphanet.

Recent clinical studies

Etiology

Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B
PLoS Genet 2016 Sep;12(9):e1006307. Epub 2016 Sep 13 doi: 10.1371/journal.pgen.1006307. PMID: 27622494Free PMC Article

Diagnosis

McPherson E, Zaleski C, Ye Z, Lin S
Am J Med Genet A 2014 Jul;164A(7):1841-5. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36555. PMID: 24715698
Gana S, Gentilin B, Bianchi V, Gorla S, Ceriani F, Melloni G, Lalatta F
Clin Dysmorphol 2013 Oct;22(4):135-9. doi: 10.1097/MCD.0b013e32836351c8. PMID: 23811969

Clinical prediction guides

Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B
PLoS Genet 2016 Sep;12(9):e1006307. Epub 2016 Sep 13 doi: 10.1371/journal.pgen.1006307. PMID: 27622494Free PMC Article

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