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Items: 7

1.

Craniofrontonasal dysplasia

Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004). [from OMIM]

MedGen UID:
65095
Concept ID:
C0220767
Congenital Abnormality; Disease or Syndrome
2.

Abnormality of the skeletal system

An abnormality of the skeletal system. [from HPO]

MedGen UID:
428236
Concept ID:
CN000866
Finding
3.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
4.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
5.

Wieacker syndrome

Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013). [from OMIM]

MedGen UID:
163227
Concept ID:
C0796200
Disease or Syndrome
6.

Limited cutaneous systemic sclerosis

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. [from ORDO]

MedGen UID:
832779
Concept ID:
CN201210
Finding
7.

Aplasia of the nose

Complete absence of all nasal structures. [from HPO]

MedGen UID:
429882
Concept ID:
CN008765
Finding
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