Cornelia de Lange syndrome
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1 6410 Eponyms: Inheritance: Semeiological Synthesis: Group Sub group Signs: BDLS Brachmann-de Lange syndrome CDL typus degenerativus amstelodamensis sporadic supposed autosomal dominant Cutaneous-facio-neuro-skeletal disorder. Mental retardation, hirsutism, synophrys, microcephaly, long philtrum, anteverted nostrils, thin lips, upper limb defects, oesophageal atresia, brachyoesophagus, ocular changes. There may be milder forms of the condition. Marked variability of expression has been observed. AUDITORY DISORDERS deafness deafness sensorineural, including unspecified type deafness, in syndromic association CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features nuchal lucency, increased foetal nuchal translucency dermatoglyphics, changes dermatoglyphics, interdigital digital triradial changes dermatoglyphics, thenar-hypothenar patterns changes fifth finger, single crease lanugo, modified appearance hypertrichosis, hirsutism GASTROINTESTINAL DISORDERS ileum and/or colon, anomalies gut malrotation, intestinal malrotation oesophageal anomalies gastroesophageal reflux oesophageal atresia, brachyoesophagus GENITAL DISORDERS breast, changes nipples: inverted, absent, hypoplasitc genital dysfunctions hypogenitalism, hypogonadism; small testes, microorchidism, hypoplastic scrotum male genitalia, modifications not including ambiguity cryptorchidism hypospadias LABORATORY DATA chromosomal assignment chromosome 3q localization foetal-amniotic biochemical data foetal alpha-fetoprotein (AFP), low levels gene, structural-functional anomalies CDL1, gene chr.3q26.3 gene analysis-dna analysis PAPP-A (pregnancy associated plasma protein-a), gene chr.9q33.1 plasma proteins, anomalies Page 1 of 5
2 PAPP-A (pregnancy associated plasma protein-a), low levels pregnancy associated-plasma protein A, low levels protein A pregnancy-associated MUSCULAR DISEASES muscular defects, distrectual diaphragmatic defects, diaphragmatic hernia NEUROLOGICAL DISORDERS behaviour, changes aggressivity, irritability, hyperactivity brain anomalies microcephaly, microcrania hydrocephalus Dandy-Walker malformation, including Dandy- Walker variant mental retardation mental retardation neurological dysfunctions seizures, convulsions, epilepsy OCULAR DISORDERS corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies eyelashes, bushy eyelids, cysts, swelling, nodules, oedema optical nerve defects optic nerve, coloboma visus defects myopia OROCRANIOFACIAL ANOMALIES cutis, vascular changes cutis, marmorata external ear malformations ear, low set facies, modified appearance dysmorphic face facial dysmorphism due to cranial changes including microcephaly forehead-orbital region, changes eyebrows, bushs forehead, hairy, hypertrichosis synophrys, eyebrows meeting across the midline lip-palate, cleft lip and palate cleft, cheilognatopalatoschisis not including isolated palate cleft lips, modified appearance lips, mouth, downturned corners lower lip, thin mandibular changes micrognathia, mandibular hypoplasia, small jaw, not including: severe micrognathia, agnathia neck, modified appearance neck, short nuchal cyst, cystic nuchal hygromas Page 2 of 5
3 pterygium colli, webbed neck, including: thickened nuchal fold, nuchal thickening nose, modified appearance choanal atresia nose, philtrum long nose, pointed, anteverted nostrils nose, small, nose tiny, nose short, not including very small palatopharyngeal changes palate cleft, palatoschisis, including submucous, not including lip and palate cleft teeth, modified structures teeth, late eruption OTHERS supergroups cardio-cutaneous-facio disorders cardio-cutaneous-oculo disorders cardio-cutaneous-oto-skeletal disorders cardio-facio-gastrointestinal-skeletal disorders cardio-facio-genito-neuro-skeletal disorders cardio-facio-neuro-skeletal disorders cardio-facio-oculo-skeleto-urological disorders cardio-facio-oto-skeletal disorders cardio-facio-urological disorders cardio-genito-skeleto-urological disorders cutaneous-facio-neuro-oculo disorders cutaneous-facio-oto-urological disorders cutaneous-genito-neuro-skeletal disorders cutaneous-genito-neuro-urological disorders cutaneous-oculo-oto-skeletal disorders facio-gastrointestinal-neuro-oculo-skeletal disorders facio-genito-neuro-skeletal disorders facio-genito-oculo-oto disorders facio-genito-skeleto-urinary facio-neuro-oculo-oto disorders facio-neuro-oculo-skeletal disorders facio-oto-respiratory disorders gastrointestinal-oculo-skeleal disorders genito-oculo-oto-urological disorders oto-skeleto-urological disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes birth length, decreased; low birth length birth weight, low; foetal growth decreased, intrauterine growth retardation, intrauterine growth restriction, IUGR foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques foetal nuchal translucency, foetal cystic hygroma prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, metabolic RESPIRATORY DISORDERS larynx, changes cry, hoarse voice, hoarseness husky voice, high; pitched voice SKELETAL DISORDERS brachydactyly brachydactyly, brachyphalangy, in syndromic association brachymesophalangy Page 3 of 5
4 elbow, anomalies elbow, ankylosis fingers, defects ectrodactyly, adactyly, oligodactyly fingers, modified form, deformity clinodactyly limb anomalies, limb defects osteochondrodysplasias and other severe skeletal defects phocomelia ossification, changes bone age, delayed radioulnar changes radius, short, hypoplastic radius ulna, short, hypoplastic skull shape, changes brachycephaly craniosynostosis stature, growth, modified habitus stature, short, including micromelia, including short limbs stature, very short syndactyly syndactyly, in syndromic association thumb-hallux, anomalies thumb-hallux, proximally set thumb-toes, short, hypoplastic UROLOGICAL DISORDERS kidney, malformations kidney, cysts, including nephronophthisis (medullary cystic kidney) kidney, enlarged Super group: cardio-cutaneous-facio disorders cardio-cutaneous-ocular disorders cardio-cutaneous-oto-skeletal disorders cardio-facio-gastrointestinal-skeletal disorders cardio-facio-genito-neuro-skeletal disorders cardio-facio-neuro-oculo-oto disorders cardio-facio-neuro-skeletal disorders cardio-facio-oculo-skeleto-urological disorders cardio-facio-oto-skeletal disorders cardio-facio-urological disorders cardio-genito-skeleto-urological disorders cutaneous-facio-neuro-ocular disorders cutaneous-facio-oto-urological disorders cutaneous-genito-neuro-skeletal disorders cutaneous-genito-neuro-urological disorders cutaneous-oculo-oto-skeletal disorders dysmorphic face-mental retardation: deafness dysmorphic face-mental retardation: dermatological disorders dysmorphic face-mental retardation: skeletal disorders facio-gastrointestinal-neuro-oculo-skeletal disorders facio-genito-neuro-skeletal disorders facio-genito-oculo-oto disorders facio-genito-skeleto-urological disorders facio-neuro-oculo-skeletal disorders facio-oto-respiratory disorders gastrointestinal-oculo-skeletal disorders genito-oculo-oto-urological disorders oto-skeleto-urological disorders Page 4 of 5
5 Super aggreg. Aggregations: DEAFNESS deafness, in syndromic association FOETAL CHANGES foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques nuchal translucency, cystic hygroma OTHER craniofacial dysmorphism due to cranial changes, including microcephaly dysmorphic face Differential diagnosis: Brachmann-De Lange-like syndrome brachydactyly, Richieri-Costa syndrome chromosome 3q+ syndrome Coffin-Siris syndrome cutis marmorata telangiectatica congenita Edinburg malformation syndrome Fanconi pancytopenia, type 1 foetal maternal valproate syndrome Gershoni-Baruch syndrome Habel syndrome Hajdu-Cheney syndrome Holt-Oram syndrome MacDermot-Winter syndrome mesomelia-radial hypoplasia, Brunoni type Rubinstein-Taybi syndrome Seckel syndrome1-2 Verloes syndrome Woods syndrome Bibliography OMIM ID: Prenat.Diagn.19, ,1999 Smith's Recognizable Patterns of Human Malformation. 6th Edition pag Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.27 Wiedemann H.R.-Kunze J.: Clinical Syndromes, Mosby-Wolfe Ed pag Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 206 Page 5 of 5
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