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Items: 11

1.

Diaphyseal dysplasia

Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life. [from GeneReviews]

MedGen UID:
4268
Concept ID:
C0011989
Disease or Syndrome; Finding
2.

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

MedGen UID:
1748867
Concept ID:
C5399977
Disease or Syndrome
3.

Dystonia 16

Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.

The signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).

In dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.

Some people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.

The signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders. [from MedlinePlus Genetics]

MedGen UID:
436979
Concept ID:
C2677567
Disease or Syndrome
4.

Familial cold autoinflammatory syndrome 2

Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes. Additional features may include abdominal pain, thoracic pain, and sensorineural deafness. The age at onset is variable, ranging from the first year of life to middle age, and the severity and clinical manifestations are heterogeneous (summary by Shen et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100). [from OMIM]

MedGen UID:
435869
Concept ID:
C2673198
Disease or Syndrome
5.

Charcot-Marie-Tooth disease axonal type 2V

A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. [from SNOMEDCT_US]

MedGen UID:
1800473
Concept ID:
C5569050
Disease or Syndrome
6.

Spinocerebellar ataxia 43

Spinocerebellar ataxia-43 (SCA43) is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

MedGen UID:
934730
Concept ID:
C4310763
Disease or Syndrome
7.

Charcot-Marie-Tooth disease type 5

Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; 118200) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; 118210). See also HMSN III (145900) and HMSN IV (266500). For an autosomal recessive disorder with similarities to HMSN V, see 607731. [from OMIM]

MedGen UID:
1648461
Concept ID:
C4721916
Disease or Syndrome
8.

Camurati-Engelmann disease, type 2

Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder. [from MONDO]

MedGen UID:
419470
Concept ID:
C2931683
Disease or Syndrome
9.

Pili torti-developmental delay-neurological abnormalities syndrome

Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (summary by Sharma et al., 2019). [from OMIM]

MedGen UID:
342358
Concept ID:
C1849811
Disease or Syndrome
10.

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. [from ORDO]

MedGen UID:
355875
Concept ID:
C1864942
Disease or Syndrome
11.

Lower limb pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. [from HPO]

MedGen UID:
6033
Concept ID:
C0023222
Sign or Symptom

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