Clinical Signs and Symptoms
ORPHA:261323 21q22.11q22.12 microdeletion syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Thrombocytopenia HP:0001873
Very frequent
- Abnormal facial shape HP:0001999
- Absent speech HP:0001344
- Behavioral abnormality HP:0000708
- Brachydactyly HP:0001156
- Bulbous nose HP:0000414
- Camptodactyly HP:0012385
- Clinodactyly HP:0030084
- Coarse facial features HP:0000280
- Failure to thrive in infancy HP:0001531
- Feeding difficulties in infancy HP:0008872
- Intellectual disability HP:0001249
- Microcephaly HP:0000252
- Postnatal growth retardation HP:0008897
- Seizure HP:0001250
- Severe global developmental delay HP:0011344
- Short stature HP:0004322
- Sleep-wake cycle disturbance HP:0006979
- Small nail HP:0001792
Frequent
- Acromesomelia HP:0003086
- Agenesis of corpus callosum HP:0001274
- Almond-shaped palpebral fissure HP:0007874
- Anemia HP:0001903
- Anteverted nares HP:0000463
- Atrial septal defect HP:0001631
- Bruxism HP:0003763
- Cone-shaped epiphyses of the phalanges of the hand HP:0010230
- Delayed skeletal maturation HP:0002750
- Dental crowding HP:0000678
- Downslanted palpebral fissures HP:0000494
- Downturned corners of mouth HP:0002714
- Drooling HP:0002307
- Dry skin HP:0000958
- Hyperactivity HP:0000752
- Hypertelorism HP:0000316
- Hypoplastic nipples HP:0002557
- Inappropriate crying HP:0030215
- Infantile muscular hypotonia HP:0008947
- Low-set ears HP:0000369
- Microtia HP:0008551
- Midface retrusion HP:0011800
- Nail dystrophy HP:0008404
- Periorbital hyperpigmentation HP:0001106
- Poor speech HP:0002465
- Recurrent otitis media HP:0000403
- Round face HP:0000311
- Sacral dimple HP:0000960
- Scaphocephaly HP:0030799
- Self-injurious behavior HP:0100716
- Short palpebral fissure HP:0012745
- Short proximal phalanx of the 2nd finger HP:0009597
- Short proximal phalanx of the 5th finger HP:0009226
- Smooth philtrum HP:0000319
- Stereotypical body rocking HP:0012172
- Strabismus HP:0000486
- Thick lower lip vermilion HP:0000179
- Thick vermilion border HP:0012471
- Thin upper lip vermilion HP:0000219
- Tongue thrusting HP:0100703
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.