Rare Pulmonology News

Disease Profile

Frank Ter Haar 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

Antenatal

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)

Ter Haar syndrome; Autosomal recessive Melnick-Needles syndrome (formerly); Megalocornea, multiple skeletal anomalies, and developmental delay

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.[1][2]

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
Acne
0001061
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Brachydactyly
Short fingers or toes
0001156
Coarse facial features
Coarse facial appearance
0000280
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
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
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Mitral valve prolapse
0001634
Osteolysis
Breakdown of bone
0002797
Short philtrum
0000322
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Thickened skin
Thick skin
0001072
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Beaking of vertebral bodies
0004568
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Camptodactyly of finger
Permanent flexion of the finger
0100490
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Genu recurvatum
Back knee
Knee hyperextension

[ more ]

0002816
Gingival overgrowth
Gum enlargement
0000212
High forehead
0000348
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Kyphosis
Hunched back
Round back

[ more ]

0002808
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss

[ more ]

0006480
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Scoliosis
0002650
5%-29% of people have these symptoms
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect

[ more ]

0001627
Gynecomastia
Enlarged male breast
0000771
Inguinal hernia
0000023
Motor delay
0001270
Umbilical hernia
0001537
Percent of people who have these symptoms is not available through HPO
Abnormality of cardiovascular system morphology
0030680
Abnormally large globe
Increased size of eyes
Large eyes

[ more ]

0001090
Anterior concavity of thoracic vertebrae
0004611
Autosomal recessive inheritance
0000007
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Broad clavicles
Broad collarbone
0000916
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

0000455
Buphthalmos
Enlarged eyeball
0000557
Cortical irregularity
0005731
Delayed cranial suture closure
0000270
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Flared metaphysis
Flared wide portion of long bone
0003015
Flat occiput
0005469
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Glaucoma
0000501
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hip dysplasia
0001385
Low-set ears
Low set ears
Lowset ears

[ more ]

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 Frank Ter Haar syndrome. Click on the link to view a sample search on this topic.

References

  1. Frank-Ter Haar syndrome. Orphanet. April 2008; https://omim.org/entry/249420. Accessed 8/18/2011.
  2. Frank-Ter Haar syndrome. Online Mendelian Inheritance of Man (OMIM). MAach 2010; https://omim.org/entry/249420. Accessed 8/18/2011.

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