Total 29 clinical symptoms reported for Desbuquois dysplasia 1  Very Frequent (16)Frequent (13)

Abnormal femoral neck/head morphology	Synonyms:Abnormal neck or head of thigh bone; Abnormality of the femoral neck or head region	Very frequent
Abnormal metaphysis morphology	An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.   Synonyms:Abnormality of the wide portion of a long bone	Very frequent
Accelerated skeletal maturation	An abnormally increased rate of skeletal maturation. Accelerated 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:Advanced bone age; Early bone maturation	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
Aplasia/Hypoplasia of the abdominal wall musculature	Absence or underdevelopment of the abdominal musculature.   Synonyms:Absent/small abdominal wall muscles; Absent/underdeveloped abdominal wall muscles	Very frequent
Bell-shaped thorax	The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.   Synonyms:Bell-shaped chest; Constricted, bell-shaped thorax; Narrow, bell-shaped thorax	Very frequent
Camptodactyly of finger	The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.   Synonyms:Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures	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
Disproportionate short-limb short stature	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.   Synonyms:Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism	Very frequent
Glaucoma	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.	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
Joint hypermobility	The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.   Synonyms:Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness	Very frequent
Patellar dislocation	The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.   Synonyms:Dislocated kneecap; Dislocated patellae; Dislocation of patella	Very frequent
Proptosis	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.   Synonyms:Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi	Very frequent
Severe short stature	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.   Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe	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