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Disease Profile

Short stature-craniofacial anomalies-genital hypoplasia 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)

Haspeslagh syndrome; Haspeslagh-Fryns-Muelenaere 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.
orphanet

Orpha Number: 2994

Definition
Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.

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
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Amniotic constriction ring
0009775
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Flat face
Flat facial shape
0012368
Frontal bossing
0002007
High hypermetropia
Severe farsightedness
Severe long-sightedness

[ more ]

0008499
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Low-set, posteriorly rotated ears
0000368
Microretrognathia
Small retruded chin
0000308
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Short stature
Decreased body height
Small stature

[ more ]

0004322
Trigonocephaly
Triangular skull shape
Wedge shaped skull

[ more ]

0000243
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Cleft palate
Cleft roof of mouth
0000175
Finger syndactyly
0006101
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypothyroidism
Underactive thyroid
0000821
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Short neck
Decreased length of neck
0000470
5%-29% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Ectopic anus
Abnormal anus position
0004397
Short distal phalanx of finger
Short outermost finger bone
0009882
Triphalangeal thumb
Finger-like thumb
0001199
Percent of people who have these symptoms is not available through HPO
Abnormal cortical gyration
0002536
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Autosomal dominant inheritance
0000006
External genital hypoplasia
Underdevelopment of external reproductive organs
0003241
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplastic nipples
Small nipples
0002557
Hypospadias
0000047
Malar flattening
Zygomatic flattening
0000272
Narrow mouth
Small mouth
0000160
Pectus excavatum
Funnel chest
0000767
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Pterygium
0001059
Seizure
0001250
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762

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 Short stature-craniofacial anomalies-genital hypoplasia syndrome. Click on the link to view a sample search on this topic.