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 |
---|---|---|
100% of people have these symptoms | ||
Hypothalamic hamartoma | 0002444 | |
30%-79% of people have these symptoms | ||
3-4 finger cutaneous |
0011939 | |
Abnormal basal ganglia |
0012751 | |
Abnormal prolactin level | 0040086 | |
Accessory oral frenulum | 0000191 | |
Adrenocorticotropic |
0011748 | |
Anal atresia |
Absent anus
|
0002023 |
Anteverted nares |
Upturned nasal tip
Nasal tip, upturned
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Bifid uvula | 0000193 | |
Bilateral postaxial |
0006136 | |
Short fingers or toes
|
0001156 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
Central adrenal insufficiency | 0011734 | |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Gonadotropin deficiency | 0008213 | |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Laryngeal cleft | 0008751 | |
Low-set, posteriorly rotated ears | 0000368 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Microtia |
Underdeveloped ears
Small ears
[ more ]
|
0008551 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ]
|
0000695 |
Pituitary hypothyroidism |
Low thyroid gland function due to abnormal pituitary gland
|
0008245 |
Polydactyly affecting the 3rd finger |
Extra middle finger
|
0009958 |
Polydactyly affecting the 4th finger |
Extra ring finger
|
0009971 |
Drooping upper eyelid
|
0000508 | |
Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
Radial head subluxation | 0003048 | |
Recurrent upper and lower respiratory tract infections | 0200117 | |
Renal dysplasia | 0000110 | |
Rib fusion |
Fused ribs
|
0000902 |
Secondary growth hormone deficiency | 0008240 | |
Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Skeletal dysplasia | 0002652 | |
Supernumerary metacarpal bones |
Extra long bones of hand
|
0005917 |
Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
5%-29% of people have these symptoms | ||
Abnormal |
0001273 | |
Abnormal lung lobation | 0002101 | |
Adrenal hypoplasia |
Small adrenal glands
|
0000835 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
Atrioventricular canal defect | 0006695 | |
Auricular tag | 0030021 | |
Bifid epiglottis | 0010564 | |
Broad toe |
Wide toe
|
0001837 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
0410030 | ||
Cleft upper lip |
Harelip
|
0000204 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
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 |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ]
|
0000086 |
Facial grimacing | 0000273 | |
Focal emotional |
0010821 | |
Global |
0001263 | |
Holoprosencephaly | 0001360 | |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ]
|
0001520 |
Microglossia |
Underdevelopment of the tongue
Abnormally small tongue
[ more ]
|
0000171 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Microretrognathia |
Small retruded chin
|
0000308 |
Midline facial capillary hemangioma | 0007601 | |
Oligodactyly | 0012165 | |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
Panhypopituitarism | 0000871 | |
Paroxysmal bursts of laughter | 0000749 | |
Patent ductus arteriosus | 0001643 | |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
Primary adrenal insufficiency | 0008207 | |
Thyroid hypoplasia | 0005990 | |
Umbilical hernia | 0001537 | |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
|
0000122 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
1%-4% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
Aplasia/hypoplasia of the uterus |
Absent/small uterus
Absent/underdeveloped uterus
[ more ]
|
0008684 |
Aplasia/Hypoplasia of the vagina |
Absent/small vagina
Absent/underdeveloped vagina
[ more ]
|
0011026 |
Arrhinencephaly | 0002139 | |
Bilateral renal agenesis | 0010958 | |
Distal arthrogryposis | 0005684 | |
Hydrometrocolpos | 0030010 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Osteochondroma | 0030431 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Scaphocephaly | 0030799 | |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Talipes | 0001883 | |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ]
|
0000243 |
Y-shaped metacarpals |
Y-shaped long bone of hand
|
0006042 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
Distal shortening of limbs |
Short outer part of limbs
|
0006402 |
Distal urethral |
0008706 | |
Growth hormone deficiency | 0000824 | |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
Hypoplasia of the epiglottis | 0005349 | |
Mesoaxial foot polydactyly |
Central polydactyly of feet
|
0010112 |
Mesoaxial hand polydactyly | 0006159 | |
Neonatal death |
Neonatal lethal
|
0003811 |
Postaxial foot polydactyly |
Extra toe attached near the little toe
|
0001830 |
Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
Preductal coarctation of the aorta | 0005151 | |
Renal cyst |
Kidney cyst
|
0000107 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Seizure | 0001250 | |
Thyroid dysgenesis | 0008188 | |
0003828 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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Differential diagnoses include oral-facial-digital syndrome type 6, Holzgreve-Wagner-Rehder syndrome, McKusick-Kaufman syndrome, Holt-Oram syndrome, Bardet-Biedl syndrome, Smith-Lemli-Opitz syndrome, as well as craniopharyngioma, Greig cephalopolysyndactyly syndrome Ellis Van Creveld syndrome (see these terms) and congenital hypothalamic hamartoma syndrome.
Visit the
Orphanet disease page
for more information.
|
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