Total 99 clinical symptoms reported for Cornelia de Lange syndrome 1
| Abnormally low-pitched voice |
A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual.
Synonyms:Low pitched voice; Low-pitched voice |
Very frequent |
| Anteverted nares |
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Synonyms:Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils |
Very frequent |
| Atresia of the external auditory canal |
Absence or failure to form of the external auditory canal.
Synonyms:Absent auditory canals; Absent ear canal; Absent external auditory canals; Atretic auditory canal; Atretic auditory canals; Atretic external auditory canal; Atretic external auditory canals; Auditory canal atresia; External acoustic meatus atresia; External auditory canal atresia; External auditory meatal atresia; External auditory meatus atresia |
Very frequent |
| Brachycephaly |
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Synonyms:Short and broad skull |
Very frequent |
| Curly eyelashes |
Abnormally curly or curved eyelashes.
Synonyms:Curly eyelashes |
Very frequent |
| Delayed eruption of teeth |
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Synonyms:Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption |
Very frequent |
| Delayed skeletal maturation |
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation |
Very frequent |
| Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
| Downturned corners of mouth |
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Synonyms:Downturned corners of mouth; Downturned corners of the mouth; Downturned mouth; Downturned oral commisures |
Very frequent |
| Gastroesophageal reflux |
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Synonyms:Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn |
Very frequent |
| Generalized hirsutism |
Abnormally increased hair growth over much of the entire body.
Synonyms:Excessive hairiness over body |
Very frequent |
| High palate |
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Synonyms:Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched |
Very frequent |
| Highly arched eyebrow |
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Synonyms:Arched eyebrows; Broad, arched eyebrows; High, rounded eyebrows; High-arched eyebrows; Highly arched eyebrow; Thick, flared eyebrows |
Very frequent |
| Hypertonia |
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Synonyms:Hypertonicity; Increased muscle tone |
Very frequent |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
| Intellectual disability, severe |
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Synonyms:Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation |
Very frequent |
| Long eyelashes |
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Synonyms:Ciliary trichomegaly; Eyelash trichomegaly; Increased length of eyelashes; Long eyelashes; Unusually long eyelashes |
Very frequent |
| Long philtrum |
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Synonyms:Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum |
Very frequent |
| Low anterior hairline |
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Synonyms:Low frontal hairline; Low-set frontal hairline |
Very frequent |
| Low posterior hairline |
Hair on the neck extends more inferiorly than usual.
Synonyms:Low hairline at back of neck; Low posterior hair line |
Very frequent |
| Microcephaly |
Head circumference below 2 standard deviations below the mean for age and sex.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference |
Very frequent |
| Micrognathia |
Developmental hypoplasia of the mandible.
Synonyms:Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible |
Very frequent |
| Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
| Proximal placement of thumb |
Proximal mislocalization of the thumb.
Synonyms:Attachment of thumb close to wrist; Low implantation of the thumb; Low-set thumb; Proximally placed thumbs |
Very frequent |
| Short 1st metacarpal |
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Synonyms:First metacarpal hypoplasia; First metacarpals hypoplastic; Hypoplastic 1st metacarpal; Short first metacarpal; Short first metacarpals; Shortened 1st long bone of hand |
Very frequent |
| Short foot |
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Synonyms:Hypoplastic feet; Short feet; Short foot; Small feet |
Very frequent |
| Short neck |
Diminished length of the neck.
Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck |
Very frequent |
| Short nose |
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Synonyms:Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose |
Very frequent |
| Short stature |
A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Small hand |
Disproportionately small hand.
Synonyms:Disproportionately small hands; Small hand |
Very frequent |
| Synophrys |
Meeting of the medial eyebrows in the midline.
Synonyms:Monobrow; Synophris; Unibrow |
Very frequent |
| Thick eyebrow |
Increased density/number and/or increased diameter of eyebrow hairs.
Synonyms:Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows |
Very frequent |
| Thin vermilion border |
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Synonyms:Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermillion |
Very frequent |
| Toe syndactyly |
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as 'bony' Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as 'Symphalangism'.
Synonyms:Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes |
Very frequent |
| Widely spaced teeth |
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Synonyms:Generalized dental spacing; Generalized spacing of teeth; Multiple diastemata; Wide-spaced teeth; Widely spaced teeth; Widely-spaced teeth |
Very frequent |