Microbrachycephaly ptosis cleft lip

Title

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Nervous System Diseases See More

Summary Summary

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

Orpha Number: 2511

Definition

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.

Visit the Orphanet disease page for more resources.

Last updated: 2/1/2007

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal thumb morphology	Abnormality of the thumb Abnormality of the thumbs Thumb deformity [ more ]	0001172
Abnormality of the metacarpal bones	Abnormality of the long bone of hand	0001163
Abnormality of the pubic bone	Abnormality of the pubic bones Abnormality of the pubis [ more ]	0003172
Abnormality of the wrist	Abnormalities of the wrists	0003019
Bilateral single transverse palmar creases		0007598
Brachycephaly	Short and broad skull	0000248
Brachydactyly	Short fingers or toes	0001156
Delayed cranial suture closure		0000270
Flat occiput		0005469
Global developmental delay		0001263
Hearing abnormality	Abnormal hearing	0000364
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Large fontanelles	Wide fontanelles	0000239
Large iliac wings		0008818
Long face	Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ]	0000276
Malar flattening	Zygomatic flattening	0000272
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
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Narrow face	Decreased breadth of face Decreased width of face [ more ]	0000275
Narrow nasal bridge	Narrow bridge of nose Nasal Bridge, Narrow Nasal bridge, thin [ more ]	0000446
Pectus excavatum	Funnel chest	0000767
Ptosis	Drooping upper eyelid	0000508
Scoliosis		0002650
Severe short stature	Dwarfism Proportionate dwarfism Short stature, severe [ more ]	0003510
Shagreen patch		0009721
Short palm		0004279
Specific learning disability		0001328
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Underdeveloped supraorbital ridges	Flattened bony protrusion above eyes	0009891
Unilateral cleft lip	One sided cleft upper lip	0100333
30%-79% of people have these symptoms
Cone-shaped epiphysis	Cone-shaped end part of bone	0010579
Hyperlordosis	Prominent swayback	0003307

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Last updated: 3/1/2020

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Learn 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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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