Rare Pediatrics News
Disease Profile
Robinow syndrome
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.
Unknown
Age of onset
Infancy
ICD-10
Q87.1
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)
Robinow dwarfism; Fetal face syndrome; Acral dysostosis with facial and genital abnormalities;
Categories
Congenital and Genetic Diseases
Summary
Robinow
Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs;
Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene.[1]
In some cases, the underlying cause of Robinow syndrome is unknown.[1] Management may include bracing or surgery for skeletal abnormalities and growth
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
|
|
---|---|---|---|
1%-4% of people have these symptoms | |||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils
Upturned nose
[ more ] |
0000463 | |
Bifid tongue |
Cleft tongue
Forked tongue
Split tongue
[ more ] |
0010297 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal root
Low nasal bridge
[ more ] |
0005280 | |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Long eyelashes |
Unusually long eyelashes
Increased length of eyelashes
[ more ] |
0000527 | |
Low-set ears |
Lowset ears
Low set ears
[ more ] |
0000369 | |
Nail dysplasia |
Atypical nail growth
|
0002164 | |
Narrow palate |
Narrow roof of mouth
|
0000189 | |
Oral cleft |
Cleft of the mouth
|
0000202 | |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 | |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 | |
Short neck |
Decreased length of neck
|
0000470 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Small hand |
Disproportionately small hands
|
0200055 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 | |
Percent of people who have these symptoms is not available through HPO | |||
Absent uvula | 0010292 | ||
Aplasia/Hypoplasia involving the metacarpal bones |
Absent/small long bones of hand
Absent/underdeveloped long bones of hand
[ more ] |
0005914 | |
0000006 | |||
0000007 | |||
Bifid distal phalanx of toe |
Notched outermost bones of toes
|
0001853 | |
Short fingers or toes
|
0001156 | ||
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 | |
Broad toe |
Wide toe
|
0001837 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 | |
Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ] |
0000060 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Delayed cranial suture closure | 0000270 | ||
Delayed eruption of permanent teeth |
Delayed eruption of adult teeth
|
0000696 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 | |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Duplication of the outermost bone of hand
Notched outermost bone of hand
[ more ] |
0009883 | ||
Flat face |
Flat facial shape
|
0012368 | |
Frontal bossing | 0002007 | ||
Gingival overgrowth |
Gum enlargement
|
0000212 | |
Global |
0001263 | ||
Hydronephrosis | 0000126 | ||
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 | |
Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ] |
0000059 | |
Hypoplastic sacrum |
Small sacrum
|
0004590 | |
Inguinal hernia | 0000023 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Long palpebral fissure |
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ] |
0000637 | |
Long philtrum | 0000343 | ||
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 | |
Malar flattening |
Zygomatic flattening
|
0000272 | |
Mesomelia |
Disproportionately short middle portion of limb
|
0003027 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Micropenis |
DiagnosisThe Genetic Testing Registry (GTR) provides information about the genetic tests for Robinow syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Testing Resources
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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
Organizations Providing General Support
Learn moreThese 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
References
Rare Pediatrics News |