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Disease Profile

Renal dysplasia-limb defects 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.
<1 / 1 000 000

< 331

US Estimated

< 514

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)

Ulbright Hodes syndrome; RL syndrome; Renal dysplasia, mesomelia, and radiohumeral fusion;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases

Summary

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

Orpha Number: 3404

Definition
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.

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
30%-79% of people have these symptoms
Abnormality of the penis
0000036
Aplasia/Hypoplasia of the ulna
Absence/underdevelopment of inner forearm bone
0006495
Bilateral external ear deformity
0040111
Birth length less than 3rd percentile
0003561
Clitoral hypertrophy
Enlarged clitoris
0008665
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
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
Enlarged labia minora
0008683
Fibular aplasia
Absent calf bone
0002990
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Humeroradial synostosis
Fusion of upper and lower arm bones
0003041
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Large beaked nose
0003683
Long upper lip
Elongation of upper lip
Increased height of upper lip
Increased vertical length of upper lip

[ more ]

0011341
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Maternal diabetes
gestational diabetes
0009800
Mesomelia
Disproportionately short middle portion of limb
0003027
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow mouth
Small mouth
0000160
Oligohydramnios
Low levels of amniotic fluid
0001562
Ovoid thoracolumbar vertebrae
0003309
Phocomelia
0009829
Pneumothorax
Collapsed lung
0002107
Polycystic kidney dysplasia
0000113
Postnatal growth retardation
Growth delay as children
0008897
Potter facies
0002009
Prominent occiput
Prominent back of the skull
Prominent posterior skull

[ more ]

0000269
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Respiratory failure
0002878
Severe intrauterine growth retardation
Severe prenatal growth deficiency
0008846
Short humerus
Short long bone of upper arm
Short upper arms

[ more ]

0005792
Short metacarpal
Shortened long bone of hand
0010049
Short neck
Decreased length of neck
0000470
Short ribs
0000773
Short sternum
0000879
Single umbilical artery
Only one artery in umbilical cord instead of two
0001195
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Thin ribs
Slender ribs
0000883
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
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
Aplasia of the ulna
0003982
Autosomal recessive inheritance
0000007
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity

[ more ]

0000444
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Neonatal death
Neonatal lethal
0003811
Renal dysplasia
0000110

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 Renal dysplasia-limb defects syndrome. Click on the link to view a sample search on this topic.