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Microbrachycephaly ptosis cleft lip


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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


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

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: 2/22/2007

Symptoms Symptoms


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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.

Showing of 33 |
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
Abnormal curving of the spine
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
Showing of 33 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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