Topic: Cornelia de Lange syndrome
Question: What are the symptoms of Cornelia de Lange syndrome ?
Answer: What are the signs and symptoms of Cornelia de Lange syndrome? The signs and symptoms of Cornelia de Lange syndrome (CdLS) vary widely among affected people and can range from relatively mild to severe. Affected people may experience: Slowed growth before and after birth Intellectual disability Developmental delay Autistic and/or self-destructive behaviors Skeletal abnormalities of the arms and hands Gastrointestinal problems Hirsutism (excess hair growth) Hearing loss Myopia Congenital heart defects Genital abnormalities (i.e. cryptorchidism) Seizures Affected people typically have distinctive craniofacial features, as well, which may include microcephaly; arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. The Human Phenotype Ontology provides the following list of signs and symptoms for Cornelia de Lange syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the eyelashes 90% Abnormality of the metacarpal bones 90% Abnormality of the voice 90% Anteverted nares 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Highly arched eyebrow 90% Hypertonia 90% Long philtrum 90% Low anterior hairline 90% Low posterior hairline 90% Microcephaly 90% Micromelia 90% Proximal placement of thumb 90% Short neck 90% Short nose 90% Short palm 90% Short stature 90% Short toe 90% Synophrys 90% Thick eyebrow 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the nipples 50% Attention deficit hyperactivity disorder 50% Blepharitis 50% Clinodactyly of the 5th finger 50% Conductive hearing impairment 50% Cryptorchidism 50% Cutis marmorata 50% Displacement of the external urethral meatus 50% Elbow dislocation 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Microcornea 50% Multicystic kidney dysplasia 50% Myopia 50% Neurological speech impairment 50% Obsessive-compulsive behavior 50% Premature birth 50% Ptosis 50% Radioulnar synostosis 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Single transverse palmar crease 50% Sleep disturbance 50% Vesicoureteral reflux 50% Abnormality of the hip bone 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Atria septal defect 7.5% Autism 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Choanal atresia 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Glaucoma 7.5% Increased nuchal translucency 7.5% Intestinal malrotation 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Pectus excavatum 7.5% Peripheral neuropathy 7.5% Prenatal movement abnormality 7.5% Primary amenorrhea 7.5% Pyloric stenosis 7.5% Renal insufficiency 7.5% Seizures 7.5% Split hand 7.5% Strabismus 7.5% Talipes 7.5% Truncal obesity 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Volvulus 7.5% Proteinuria 5% Renal cyst 5% Renal hypoplasia 5% 2-3 toe syndactyly - Abnormality of the umbilicus - Astigmatism - Autosomal dominant inheritance - Behavioral abnormality - Brachycephaly - Cleft upper lip - Curly eyelashes - Delayed speech and language development - Duplication of internal organs - Ectopic kidney - Elbow flexion contracture - Gastroesophageal reflux - Hiatus hernia - High palate - Hirsutism - Hypoplasia of the radius - Hypoplastic labia majora - Hypoplastic male external genitalia - Hypoplastic nipples - Hypoplastic radial head - Hypospadias - Inguinal hernia - Intellectual disability - Limited elbow extension - Long eyelashes - Low-set ears - Malrotation of colon - Oligodactyly (hands) - Optic atrophy - Optic nerve coloboma - Phenotypic variability - Phocomelia - Pneumonia - Proptosis - Reduced renal corticomedullary differentiation - Self-injurious behavior - Short sternum - Sporadic - Supernumerary ribs - Thrombocytopenia - Weak cry - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)