Disease Profile

Limb deficiencies distal with micrognathia

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

Q92.3

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.

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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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Other Names (AKA)

Buttiens Fryns syndrome

Categories

Congenital and Genetic Diseases

Summary

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

Orpha Number: 1307

Definition
The distal limb deficienciesmicrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.

Epidemiology
It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency.

Clinical description
Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia.

Etiology
Using high resolution oligoarray-based comparative genomic hybridization (aCGH), a 10q24 duplication or triplication was recently detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation (SHFM; see this term).

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
Abnormality of chromosome segregation
0002916
Abnormality of the ankles
0003028
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Hypoplasia of the maxilla
Decreased size of maxilla
Maxillary deficiency
Decreased size of upper jaw
Small upper jaw bones
Small upper jaw
Small maxilla
Maxillary retrusion
Upper jaw deficiency
Upper jaw retrusion

[ more ]

0000327
Low-set, posteriorly rotated ears
0000368
Microretrognathia
Small retruded chin
0000308
Oligodactyly
0012165
30%-79% of people have these symptoms
Abnormality of the wrist
Abnormalities of the wrists
0003019
Aplasia/Hypoplasia of the radius
0006501
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb

[ more ]

0009601
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Intellectual disability, moderate
IQ between 34 and 49
0002342
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Narrow mouth
Small mouth
0000160
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
5%-29% of people have these symptoms
Abnormality of the ulna
0002997
Cleft palate
Cleft roof of mouth
0000175
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Microdontia
Decreased width of tooth
0000691
Microglossia
Abnormally small tongue
Underdevelopment of the tongue

[ more ]

0000171
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Split foot
Lobster-claw foot deformity
Split-foot

[ more ]

0001839
Tarsal synostosis
Fused ankle bones
0008368
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
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Camptodactyly
Permanent flexion of the finger or toe
0012385
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Nail dystrophy
Poor nail formation
0008404
Ridged nail
Grooved nails
Nail ridging

[ more ]

0001807
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

0001171

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.

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 Limb deficiencies distal with micrognathia. Click on the link to view a sample search on this topic.