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Copyright V. Ventruto / A. Di Luccio Genus database 16960 Morse syndrome Eponyms: Inheritance: holoprosencephaly-foetal hypokinesia sequence genetic heterogeneity X-linked recessive Semeiological Arthro-facio-neurologic disorder. Decreased foetal activity, congenital contractures, microcephaly, severe oloprosencephaly. Synthesis: Group Sub group Signs: JOINT DISORDERS joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly LABORATORY DATA chromosomal assignment chromosome X localization MUSCULAR DISEASES systemic muscular defects muscular atrophy, hypotrophy, amyotrophy NEUROLOGICAL DISORDERS brain anomalies holoprosencephaly including: cyclopia, cebocephaly, ethmocephaly, arhinencephaly, synophthalmia hypothalamus, hamartoma microcephaly, microcrania septum pellucidum agenesis mental retardation mental retardation OCULAR DISORDERS eyelids, anomalies eyelids, fusion, adhesion, ankyloblepharon including ankyloblepharon filiforme adnatum OROCRANIOFACIAL ANOMALIES external ear malformations ear, low set facies, modified appearance dysmorphic face facial dysmorphism due to cranial changes including microcephaly forehead-orbital region, changes forehead, receding, sloping neck, modified appearance neck, short OTHERS inheritance inheritance, genetic heterogeneity inheritance, X-linked recessive supergroups arthro-facio-skeletal disorders arthro-neuro-skeletal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes birth weight, low; foetal growth decreased, intrauterine growth retardation, intrauterine growth restriction, IUGR foetal changes, recognized by ultrasound techniques foetal hypokinesia sequence foetal movements decreased, foetal akinesia, foetal hypokinesia Morse syndrome Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database prenatal diagnosis prenatal diagnosis, echographic SKELETAL DISORDERS elbow, anomalies elbow, ankylosis hand-foot, changes club foot, talipes, pes equinovarus knee, anomalies knee ankylosis limb anomalies, limb defects lethality, in malformations, no chondrodystrophy, no chromosomopathies Super group: arthro-facio-skeletal disorders arthro-neuro-skeletal disorders complex plurimalformations dysmorphic face-mental retardation Super aggreg. FOETAL CHANGES foetal changes, recognized by ultrasound techniques Aggregations: foetal hypokinesia sequence LETHALITY lethality in plurimalformations, not including chondrodystrophy or chromosomopathies OTHER craniofacial dysmorphism due to cranial changes, including microcephaly dysmorphic face Differential diagnosis: 27903 aprosencephaly-cerebellar dysgenesis 27749 aprosencephaly-ocular anterior chamber dysgenesis syndrome 28844 foetal akinesia syndrome, X-linked 28503 holoprosencephaly 4-9 64 Jacobsen syndrome 18040 Neu-Laxova syndrome 20460 Pena-Shokeir I syndrome Aggregation(s) [in differential diagnosis]: - lethality, in chomosomal disorders Bibliography Morse syndrome OMIM ID: 306990 Am.J.Med.Genet.113(1),23-28,2002 Page 2 of 2
