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Items: 5

1.

Torticollis

Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. [from HPO]

MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
2.

Congenital muscular torticollis

A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. [from HPO]

MedGen UID:
505878
Concept ID:
CN005277
Finding
3.

Torticollis

Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. [from HPO]

MedGen UID:
504455
Concept ID:
CN000441
Finding
4.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
5.

Craniofacial asymmetry

Asymmetry of the bones of the skull and the face. [from HPO]

MedGen UID:
425268
Concept ID:
CN003977
Finding
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