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Chitty Hall Baraitser syndrome

MedGen UID:
371330
Concept ID:
C1832438
Disease or Syndrome
Synonyms: Deafness, femoral epiphyseal dysplasia, short stature and developmental delay; Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
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)
SNOMED CT: Deafness with epiphyseal dysplasia and short stature syndrome (716238003); Chitty Hall Baraitser syndrome (716238003)
 
OMIM®: 601351
Orphanet: ORPHA3218

Definition

This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Clinical features

Abnormality of femoral epiphysis
MedGen UID:
870585
Concept ID:
C4025034
Anatomical Abnormality
An anomaly of a growth plate of a femur.
Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
A deficiency or slowing down of growth pre- and postnatally.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Epiphyseal dysplasia
MedGen UID:
95932
Concept ID:
C0392476
Congenital Abnormality
Abnormality of femoral epiphysis
MedGen UID:
870585
Concept ID:
C4025034
Anatomical Abnormality
An anomaly of a growth plate of a femur.
Lacrimal duct stenosis
MedGen UID:
116054
Concept ID:
C0238300
Finding
Narrowing of a tear duct (lacrimal duct).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChitty Hall Baraitser syndrome
Follow this link to review classifications for Chitty Hall Baraitser syndrome in Orphanet.

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