Clinical examination revealed short stature, coarse features, bushy eyebrows, anti-Mongoloid slant [Figure - 1], flared anteverted nostrils, dental abnormalities, short stubby fingers, a wide short neck, genu valgus, and swollen feet with short toes. [ijri.org]

Phenotype Short stature, coarse and dysmorphic facies, bowing of the long bones, vertebral anomalies Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. [iofbonehealth.org]

Clinical features include: short stature; premature loss of dentition; short webbed neck pseudoclubbing; shortening of digits; pain in digits optical atrophy; optic disc edema hearing loss (conductive or sensorineural) frontal and occipital headaches [radiopaedia.org]

Because of these various skeletal problems, affected individuals may reach an adult height that is noticeably shorter than would otherwise be expected (short stature). [rarediseases.org]

Some general characteristics of an individual with Hajdu–Cheney syndrome include bone flexibility and deformities, short stature, delayed acquisition of speech and motor skills, dolichocephalic skull, Wormian bone, small maxilla, hypoplastic frontal sinuses [en.wikipedia.org]

There was transverse osteolysis of the terminal phalanges with overlying soft tissue swelling [Figure - 4], along with osteolysis of the great toes on both sides, with resorption of the proximal phalanx of the 1 st right toe [Figure - 5]. [ijri.org]

Genetic markers Diagnosis involves genetic testing searching for the truncating mutation in the terminal exon of NOTCH2. 4 Associations congenital heart disease (VSD, ASD, PDA, Mitral regurgitation) polycystic kidney disease recurrent respiratory tract [radiopaedia.org]

loss of teeth, and short stature. [5] The clinical presentation, biochemical investigations, and typical radiological features aid in confirming the diagnosis. [ijri.org]

The distinctive facies with frontal bossing, mid-facial flattening, coarse thick hair, and low-set ears with large ear lobules [1], [6], [7] should alert the physician. Once suspected, the characteristic hand findings make the diagnosis easy. [ijri.org]

[…] osteolysis in distal phalanges is characteristic distal to proximal osteolysis is also seen Skull bathrocephaly (bulging of squamous occipital bone) delayed closure of sutures thickening of the mastoids aplasia of the frontal sinuses J-shaped enlarged sella dolichocephaly [radiopaedia.org]

Tsutomu Iwaya Kazuhiko Taniguchi Junzo Watanabe Kazuso Iinuma Yutaka Hamazaki Seizo Yoshikawa Summary Hajdu-Cheney syndrome is a rare type of syndrome characterized by acro-osteolysis, dolichocephaly with multiple Wormian bones, absence of frontal sinuses [link.springer.com]

There were normal clavicles, a 'heart-shaped' pelvic inlet, and bilateral genu valgum, along with dorso-lumbar kyphoscoliosis and widening of the spinal canal, with posterior scalloping in the dorsal and lumbar regions [Figure - 6]. [ijri.org]

Phenotype Short stature, coarse and dysmorphic facies, bowing of the long bones, vertebral anomalies Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. [iofbonehealth.org]

Phenotype Short stature, coarse and dysmorphic facies, bowing of the long bones, vertebral anomalies Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. [iofbonehealth.org]

Clinical examination revealed short stature, coarse features, bushy eyebrows, anti-Mongoloid slant [Figure - 1], flared anteverted nostrils, dental abnormalities, short stubby fingers, a wide short neck, genu valgus, and swollen feet with short toes. [ijri.org]

This condition can lead to poor kidney function and potentially kidney failure. Causes Hajdu-Cheney syndrome is associated with the mutation by a change (mutation) in the NOTCH2 gene. [rarediseases.org]