Total 54 clinical symptoms reported for Roberts-SC phocomelia syndrome
| Abnormality of the upper limb |
An abnormality of the arm.
Synonyms:Abnormality of the arm; Abnormality of the upper limb |
Very frequent |
| Aplasia/Hypoplasia of the thumb |
Hypoplastic/small or absent thumb.
Synonyms:Absent or hypoplastic thumbs; Absent/hypoplastic thumb; Absent/hypoplastic thumbs; Absent/small thumb; Absent/underdeveloped thumb; Aplasia/hypoplasia of thumbs; Aplastic/hypoplastic thumbs; Hypoplastic to aplastic thumbs; Hypoplastic/absent thumb; Thumb aplasia/hypoplasia |
Very frequent |
| Bowing of the long bones |
A bending or abnormal curvature of a long bone.
Synonyms:Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones |
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 |
| Clinodactyly of the 5th finger |
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Synonyms:Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger |
Very frequent |
| Complete duplication of thumb phalanx |
A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Synonyms:Complete duplication of the phalanges of the thumb; Complete duplication of thumb bones; Digitalization of thumb; Digitalization of thumbs |
Very frequent |
| Hypertelorism |
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance |
Very frequent |
| Hypoplasia of the radius |
Underdevelopment of the radius.
Synonyms:Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone |
Very frequent |
| Malar flattening |
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Synonyms:Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening |
Very frequent |
| Mesomelic arm shortening |
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
Synonyms:Mesomelia of the upper limbs; Upper limb brachymesomelia |
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 |
| Phocomelia |
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
|
Very frequent |
| Postnatal growth retardation |
Slow or limited growth after birth.
Synonyms:Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure |
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 |
| Radial deviation of finger |
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Synonyms:Radially deviated fingers; Radially deviated phalanges |
Very frequent |
| Severe intrauterine growth retardation |
Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.
Synonyms:Intrauterine growth retardation, severe; Severe prenatal growth deficiency |
Very frequent |
| Sparse hair |
Reduced density of hairs.
Synonyms:Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth |
Very frequent |
| Underdeveloped nasal alae |
Thinned, deficient, or excessively arched ala nasi.
Synonyms:Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril |
Very frequent |