Features of<unk>  include growth retardation before and after birth, defective growth of the bones of the skull along with complete or partial absence of the shoulder blades and characteristic facial features. Additional symptoms may include abnormalities of the fingers and/or toes including missing nails/fingers. In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects. Osteodysplasties or bone abnormalities may be severe enough to become fatal in as little as 10 weeks of age, making lethality extremely common during infancy. Skeletal Defects include cleidocranial dysplasia as abnormal bone development through hypoplastic (absent) clavicles, induced macrocrania (abnormal increase of skull), and diastasis (separation) of sutures.<unk>  also causes digital anomalies as most patients show aplasia (absence) of thumbs as well as distal phalanges or hypoplasia (underdevelopment) of proximal phalanx with absence and/or agenesis of halluces' (big toes') distal phalanxes sometimes with absent. Pelvic dysplasia may also be present, causing hips to be retracted and delineated through bilateral dislocation. These deformities in addition to microcephaly and reduced ossification from the disease might be partially due to the affected individual's under-mineralized skeleton. Neurologic Intraneural inclusions (bodies within neural cells) with vacuolar degeneration are prominent mostly in the patient's thalamic nuclei, dentante nuclei, cerebellar cortex, and inferior olivary nuclei. Hypoplasia of frontal lobes, corpus callosum, cerebellar vermis connecting the two brain hemispheres along with polymicrogyria causing excessive folding leading to an abnormally thick cortex are also phenotypes of this disorder. Facial Obvious signs of<unk>  include soft and large fontanelles, high forehead, prominent eyes, large ears with hypoplastic lobes, low nasal bridge, anteverted nostrils, short philtrum above the lip, high-arched palate at the roof of the mouth, micrognathia or small jaw, and sparse hair (Hypotrichosis) with absent eyebrows and eyelashes.
Yunis–Varon syndrome
Fryns-Aftimos syndrome
Townes–Brocks syndrome
McGillivray syndrome
Berk–Tabatznik syndrome
Helsmoortel-Van der Aa syndrome
CAMFAK syndrome
Van Wyk and Grumbach syndrome