Rare Dermatology News
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.
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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.
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.
Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia.
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 |
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 |
|
IQ between 34 and 49
|
0002342 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Narrow mouth |
Small mouth
|
0000160 |
|
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 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 |
|
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 | |
|
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 |
| 0000006 | ||
| 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.