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Thoracolaryngopelvic dysplasia(TLPD)

MedGen UID:: 349978
•Concept ID:: C1861197
•: Disease or Syndrome

Synonyms:	Autosomal dominant thoracolaryngopelvic dysplasia; Barnes syndrome; TLPD
SNOMED CT:	Thoracolaryngopelvic dysplasia (723556008); Barnes syndrome (723556008); Thoracolaryngopelvic dysplasia syndrome (723556008)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008551
OMIM®:	187760
Orphanet:	ORPHA3317

Definition

A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant. [from SNOMEDCT_US]

Clinical features

From HPO

Slender build

MedGen UID:: 376828
•Concept ID:: C1850573
•: Finding

Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Short ribs

MedGen UID:: 98094
•Concept ID:: C0426817
•: Finding

Reduced rib length.

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Irregular vertebral endplates

MedGen UID:: 331233
•Concept ID:: C1842153
•: Finding

An irregular surface of the vertebral end plates, which are normally relatively smooth.

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Narrow pelvis bone

MedGen UID:: 336266
•Concept ID:: C1848103
•: Finding

Reduced side to side width of the pelvis.

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Metaphyseal widening

MedGen UID:: 341364
•Concept ID:: C1849039
•: Finding

Abnormal widening of the metaphyseal regions of long bones.

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Irregular chondrocostal junctions

MedGen UID:: 349980
•Concept ID:: C1861199
•: Finding

Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.

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Hypoplastic iliac wing

MedGen UID:: 351279
•Concept ID:: C1865027
•: Anatomical Abnormality

Underdevelopment of the ilium ala.

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Bell-shaped thorax

MedGen UID:: 351320
•Concept ID:: C1865186
•: Finding

The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.

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Hypoplastic pelvis

MedGen UID:: 760700
•Concept ID:: C3536734
•: Anatomical Abnormality

Underdevelopment of the bony pelvis.

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Horizontal ribs

MedGen UID:: 812840
•Concept ID:: C3806510
•: Finding

A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.

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Laryngeal stenosis

MedGen UID:: 7274
•Concept ID:: C0023075
•: Pathologic Function

Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.

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Abnormality of the musculoskeletal system
Abnormality of the respiratory system
- Laryngeal stenosis
Growth abnormality
- Slender build

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVThoracolaryngopelvic dysplasia

Respiratory malformation
- Thoracolaryngopelvic dysplasia

Follow this link to review classifications for Thoracolaryngopelvic dysplasia in Orphanet.

Recent clinical studies

Diagnosis

Parturient With Barnes Syndrome (Thoracolaryngopelvic Dysplasia) Undergoing Cesarean Delivery of a Neonate With Barnes Syndrome: A Case Report.

Patel SH, Banzali FM Jr, Post RJ, Nguyen CV, Benoit RM, Tieu DD, Stranc DS, Hernandez Conte A, Rudikoff AG
A A Pract 2018 Sep 15;11(6):151-154. doi: 10.1213/XAA.0000000000000765. PMID: 29634523

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Thoracolaryngopelvic dysplasia(TLPD)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

Recent activity