Table 1.

iPPSD1: phenotypes associated with PTH1R pathogenic variants.

	MIM number	Inheritance	Suspected mechanism	Antenatal manifestations	Growth	Facial dysmorphism	Teeth	Skeletal features	Lab findings	Evolution
Blomstrand chondrodysplasia	215045	AR	Loss of function	Hydrops fetalis, polyhydramnios	n.a.	Midface hypoplasia, mandibular hypoplasia	n.a.	Advanced skeletal maturation, short limbs	n.a.	Death at birth or shortly thereafter
Eiken syndrome	600002	AR	Loss of function	n.a.	Short stature	n.a.	Primary failure of eruption	Delayed ossification, brachydactyly, partial sacrum agenesis	Normal calcemia, elevated or normal PTH	Normal intelligence
Primary failure of tooth eruption	125350	AR or AD	Loss of function or haploinsufficiency	n.a.	n.a.	n.a.	Primary failure of eruption	n.a.	n.a.	n.a.
Murk Jansen metaphyseal chondrodysplasia	156400	AD	Gain of function	n.a.	Severe postnatal short stature	Brachycephaly, hypertelorism, micrognathia.	Malposition	Generalized osteopenia, pathologic fractures, short bowed limbs, clinodactyly, short clubbed fingers	Hypercalcemia, hypophosphatemia, low or absent PTH	Waddling gait, deafness

Modified from OMIM clinical synopses.

iPPSD, inactivating PTH/PTHrP signalling disorder; AR, autosomal recessive; PTH, parathyroid hormone; n.a., not available; AD, autosomal dominant.