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Items: 13

1.

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation. [from GeneReviews]

MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
2.

Williams syndrome

Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. [from GeneReviews]

MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
3.

Migraine, familial hemiplegic, 3

Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. [from GeneReviews]

MedGen UID:
400655
Concept ID:
C1864987
Disease or Syndrome
4.

Migraine with or without aura, susceptibility to, 5

For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300). [from OMIM]

MedGen UID:
334831
Concept ID:
C1843771
Finding
5.

Episodic ataxia type 6

An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. [from SNOMEDCT_US]

MedGen UID:
390739
Concept ID:
C2675211
Disease or Syndrome
6.

Migraine with or without aura, susceptibility to, 6

MedGen UID:
334829
Concept ID:
C1843765
Finding
7.

Migraine, familial typical, susceptibility to, 2

MedGen UID:
341144
Concept ID:
C1848066
Finding
8.

Migraine with or without aura, susceptibility to, 11

MedGen UID:
387900
Concept ID:
C1857751
Finding
9.

Migraine with or without aura, susceptibility to, 3

MedGen UID:
375283
Concept ID:
C1843782
Finding
10.

Migraine with or without aura, susceptibility to, 10

MedGen UID:
341839
Concept ID:
C1857752
Finding
11.

Migraine with or without aura, susceptibility to, 12

MedGen UID:
388698
Concept ID:
C2673676
Finding
12.

Migraine without aura, susceptibility to, 4

An inherited susceptibility or predisposition to developing migraines without aura. [from MONDO]

MedGen UID:
336040
Concept ID:
C1843773
Finding
13.

Phonophobia

An abnormally heightened sensitivity to loud sounds. [from HPO]

MedGen UID:
155864
Concept ID:
C0751466
Mental or Behavioral Dysfunction
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