trigonocephaly-short stature-developmental delay syndrome
A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0015338
syndromic craniosynostosis
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
Say Meyer syndrome
related
Say-Meyer syndrome
exact
trigonocephaly, short stature and developmental delay
related
trigonocephaly, short stature, and retarded psychomotor development
related