Linear skin defects with multiple congenital anomalies

MedGen UID:: 946288
•Concept ID:: CN263260
•: Disease or Syndrome

Synonyms:	linear skin defects with multiple congenital anomalies; linear skin defects with multiple congenital anomalies 1; linear skin defects with multiple congenital anomalies type 1; LSDMCA1; MCOPS7; microphthalmia dermal aplasia and sclerocornea syndrome; microphthalmia with linear skin defects syndrome; Microphthalmia with linear skin defects syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; microphthalmia-dermal aplasia-sclerocornea syndrome; Micropthalmia syndromic 7; MIDAS syndrome; MLS syndrome; Syndromic microphthalmia type 7; syndromic microphthalmia type 7
Modes of inheritance:	X-linked dominant inheritance MedGen UID: 376232 •Concept ID: C1847879 • Finding Source: Orphanet A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. See: This record X-linked dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	NDUFB11, HCCS, COX7B

Monarch Initiative:	MONDO:0010672
OMIM® Phenotypic series:	PS309801
Orphanet:	ORPHA2556

Definition

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality. [from ORDO]