Rare Pulmonology News

Disease Profile

Fibrochondrogenesis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q77.7

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2021

Definition
Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal diaphysis morphology
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs

[ more ]

0000940
Abnormal form of the vertebral bodies
0003312
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Bell-shaped thorax
0001591
Brachydactyly
Short fingers or toes
0001156
Broad ribs
Wide ribs
0000885
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Short neck
Decreased length of neck
0000470
Short ribs
0000773
Short stature
Decreased body height
Small stature

[ more ]

0004322
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
30%-79% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Cleft palate
Cleft roof of mouth
0000175
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hearing abnormality
Abnormal hearing
0000364
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail

[ more ]

0001804
Hypoplastic scapulae
Small shoulder blade
0000882
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Narrow mouth
Small mouth
0000160
Respiratory insufficiency
Respiratory impairment
0002093
5%-29% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Micromelia
Smaller or shorter than typical limbs
0002983
Omphalocele
0001539
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Percent of people who have these symptoms is not available through HPO
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Anterior rib cupping
0000907
Autosomal recessive inheritance
0000007
Broad ischia
0100865
Broad long bones
Wide long bones
Widened long bones

[ more ]

0005622
Camptodactyly
Permanent flexion of the finger or toe
0012385
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Dumbbell-shaped long bone
0000947
Fibular hypoplasia
Short calf bone
0003038
Flat face
Flat facial shape
0012368
Frontal bossing
0002007
Hydrops fetalis
0001789
Hypoplastic ischia
0003175
Hypoplastic toenails
Underdeveloped toenails
0001800
Joint contracture of the hand
0009473
Long clavicles
Long collarbone
0000890
Long philtrum
0000343
Malar flattening
Zygomatic flattening
0000272
Megalocornea
Enlarged cornea
0000485
Narrow greater sciatic notch
0003375
Patent foramen ovale
0001655
Platyspondyly
Flattened vertebrae
0000926
Posterior rib cupping
0000922
Posterior vertebral hypoplasia
0008451
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short foot
Short feet
Small feet

[ more ]

0001773
Short long bone
Long bone shortening
0003026
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short palm
0004279
Small hand
Disproportionately small hands
0200055
Stillbirth
Stillborn
0003826
Thin clavicles
Thin collarbone
0006645
Thin ribs
Slender ribs
0000883

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Fibrochondrogenesis. Click on the link to view a sample search on this topic.

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