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Copyright V. Ventruto / A. Di Luccio
Genus database
23250
Say microcephaly syndrome
Eponyms:
Inheritance:
immunodeficiency-microencephalyretardation-skeletal defect
microcephaly-retardationchemiotactic defecthypogammaglobulinemia
supposed autosomal recessive
Semeiological Facio-genito-hemato-neuro-skeletal disorder. Postnatal growth deficiency, microcephaly, dysmorphic facies,
small genitalia, scoliosis, mental retardation, recurrent infections/eczema. hypogammaglobulinemia defective
Synthesis:
chemotaxis.
Group
Sub group
Signs:
DERMATOLOGICAL DISORDERS
hair, changes
hair, sparse not including alopecia totalis
GASTROINTESTINAL DISORDERS
anorectal anomalies
anal/anorectal atresia, malformation,
imperforate anus, stenosis
GENITAL DISORDERS
genital dysfunctions
hypogenitalism, hypogonadism; small testes,
microorchidism, hypoplastic scrotum
LABORATORY DATA
biochemical markers
metabolic defect
gene, structural-functional anomalies
ITIL (inter-alpha-trypsin inhibitor, light chain),
(ITI), (IATIL), gene chr.9q32-q33
granulocytes, changes
leucocytes, disorders
leukocytes dysfunction, including defective
neutrophil chemotaxis
infective agents
bacterial infections
lymphoreticular system, changes
B-cell changes
plasma proteins, anomalies
immunodefects, humoral B-cell
immunoglobulin total , low levels
immunological disorders
tissue, biochemical changes
protein HC (alpha-1-microglobulin) defect,
(HCP)
NEUROLOGICAL DISORDERS
brain anomalies
microcephaly, microcrania
mental retardation
mental retardation
neurological dysfunctions
neuroimmunological disorders
OROCRANIOFACIAL ANOMALIES
facies, modified appearance
dysmorphic face
eye, deep, sunken, enophthalmos
facial dysmorphism due to cranial changes
including microcephaly
proptosis, prominent eyes, exophthalmos,
protuberant eyes, protruding eyes
mandibular changes
Say microcephaly syndrome
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Copyright V. Ventruto / A. Di Luccio
Genus database
micrognathia, mandibular hypoplasia, small
jaw, not including: severe micrognathia,
agnathia
OTHERS
supergroups
cutaneous-genito-neuro-skeletal disorders
facio-genito-neuro-skeletal disorders
PRENATAL-NEONATAL MODIFIED DATA
foetal changes
foetal changes, recognized by ultrasound
techniques
prenatal diagnosis
prenatal diagnosis, echographic
SKELETAL DISORDERS
skull shape, changes
craniosynostosis
Super group:
cutaneous-genito-neuro-skeletal disorders
dysmorphic face-mental retardation: metabolic disorders
dysmorphic face-mental retardation: neuromuscular disorders
dysmorphic face-mental retardation: skeletal disorders
facio-genito-neuro-skeletal disorders
Super aggreg. FOETAL CHANGES
foetal changes, recognized by ultrasound techniques
Aggregations:
INFECTIONS SUSCEPTIBILITY
immunodefects, humoral B-cell
leucocytes, disorders
ISOLATED NEUROLOGICAL DISORDERS
neuroimmunological disorders
METABOLIC DISORDERS
immunological disorders
OTHER
craniofacial dysmorphism due to cranial changes, including microcephaly
dysmorphic face
Differential
diagnosis:
Bibliography
Say microcephaly syndrome
7610
7611
11570
19480
19490
23610
DiGeorge 1 sequence
DiGeorge 2 sequence
Hallermann-Streiff syndrome
osteodysplastic primordial dwarfism II
osteodysplastic primordial dwarfism III
Seckel syndrome1-2
OMIM ID: 251240
OMIM ID: 176870
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