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Disease Profile

Acrorenal mandibular syndrome

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.

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US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

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)

Acro-renal-uterine-mandibular syndrome; Split hand split foot mandibular hypoplasia

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: 958

Definition
A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.

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
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Rudimentary fibula
Small to absent calf bone
0006381
Rudimentary to absent tibiae
0006426
Split foot
Lobster-claw foot deformity
Split-foot

[ more ]

0001839
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

0001171
30%-79% of people have these symptoms
Abnormal clavicle morphology
Abnormal collarbone
0000889
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect

[ more ]

0004408
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus

[ more ]

0000813
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone

[ more ]

0010669
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Low-set, posteriorly rotated ears
0000368
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Oligohydramnios
Low levels of amniotic fluid
0001562
Pectus carinatum
Pigeon chest
0000768
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Short neck
Decreased length of neck
0000470
Thin ribs
Slender ribs
0000883
Uterus didelphys
0003762
5%-29% of people have these symptoms
Abnormal lung lobation
0002101
Aplasia/Hypoplasia of the tongue
0010295
Butterfly vertebrae
0003316
Congenital diaphragmatic hernia
0000776
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Finger syndactyly
0006101
Hemivertebrae
Missing part of vertebrae
0002937
Hypoplastic scapulae
Small shoulder blade
0000882
Kyphosis
Hunched back
Round back

[ more ]

0002808
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Oral cleft
Cleft of the mouth
0000202
Scoliosis
0002650
Short philtrum
0000322
Sprengel anomaly
High shoulder blade
0000912
Tracheoesophageal fistula
0002575
Percent of people who have these symptoms is not available through HPO
Abnormal sacral segmentation
0008468
Abnormality of the breast
0000769
Abnormality of the cardiovascular system
Cardiovascular abnormality
0001626
Abnormality of the ureter
0000069
Absent nipple
Absent nipples
0002561
Aplasia of the bladder
Absent bladder
0010477
Autosomal recessive inheritance
0000007
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures

[ more ]

0002987
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Foot polydactyly
Duplication of bones of the toes
0001829
Hand polydactyly
Extra finger
0001161
Kyphoscoliosis
0002751
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Missing ribs
Absent ribs
Decreased rib number

[ more ]

0000921
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Narrow palate
Narrow roof of mouth
0000189
Polycystic kidney dysplasia
0000113
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Renal agenesis
Absent kidney
Missing kidney

[ more ]

0000104
Scaphocephaly
0030799
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Unicornuate uterus

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

  • The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
  • More information on limb abnormalities can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.

    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 Acrorenal mandibular syndrome. Click on the link to view a sample search on this topic.

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