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Items: 1 to 20 of 36

1.

Deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
2.

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

MedGen UID:
504436
Concept ID:
CN000380
Finding
3.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
4.

Abnormality of the hand

An abnormality affecting one or both hands. [from HPO]

MedGen UID:
427857
Concept ID:
CN001087
Finding
5.

Sensorineural hearing loss

Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. [from MeSH]

MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
6.

Hypertelorism

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). [from OMIM]

MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
7.

Abnormality of digit

A morphological abnormality of a digit, i.e., of a finger or toe. [from HPO]

MedGen UID:
763618
Concept ID:
C3550704
Finding
8.

Short nose

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [from HPO]

MedGen UID:
505478
Concept ID:
CN002885
Finding
9.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). [from HPO]

MedGen UID:
504419
Concept ID:
CN000296
Finding
10.

Progressive sensorineural hearing impairment

A progressive form of sensorineural hearing impairment. [from HPO]

MedGen UID:
500887
Concept ID:
CN000381
Finding
11.

Hypoplasia of the maxilla

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. [from HPO]

MedGen UID:
446348
Concept ID:
CN000307
Finding
12.

Deafness, X-linked

Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified. The various inheritance patterns of nonsyndromic hearing loss are described in more detail below.The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss.Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.
[from GHR]

MedGen UID:
432740
Concept ID:
CN043651
Disease or Syndrome
13.

Flat face

MedGen UID:
342829
Concept ID:
C1853241
Finding
14.

Flat face

Absence of concavity or convexity of the face when viewed in profile. [from HPO]

MedGen UID:
336577
Concept ID:
C1849339
Finding
15.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
16.

Small nose

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [from HPO]

MedGen UID:
140868
Concept ID:
C0426414
Finding
17.

Hearing problem

Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. [from MeSH]

MedGen UID:
82636
Concept ID:
C0260662
Disease or Syndrome
18.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
19.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
20.

Crouzon syndrome

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
1162
Concept ID:
C0010273
Congenital Abnormality; Finding
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