Total 21 clinical symptoms reported for Achondrogenesis 
Abnormal enchondral ossification An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
 
Very frequent
Abnormality of bone mineral density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
 
Synonyms:Abnormality of bone mineralisation and ossification
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 lungs
 
Synonyms:Absent/small lungs; Absent/underdeveloped lungs
Very frequent
Flat face Absence of concavity or convexity of the face when viewed in profile.
 
Synonyms:Flat face; Flat facial profile; Flat facial shape; Flat facies
Very frequent
Frontal bossing Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
 
Synonyms:Frontal protruberance; Skull bossing
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
Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
 
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly
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; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; 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
Narrow chest Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
 
Synonyms:Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter
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
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 thorax Reduced inferior to superior extent of the thorax.
 
Synonyms:Shorter than typical length between neck and abdomen
Very frequent
Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues.
 
Very frequent