Symptoma

Hajdu Cheney Syndrome

Hajdu-Cheney Syndrome

HCS is a rare bone disease with a defect in collagen and bone formation. [3], [6] It has an autosomal dominant inheritance [6] but sporadic cases have also been reported. [5] It presents at birth with dysmorphic features. [ijri.org]

These mutations produce symptoms that come and go, but have been present de novo. HCS-03 was identified as the variant that is passed through afflicted family members and presents symptoms throughout the lifetime of the individual. [en.wikipedia.org]

  • Short Stature

    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]

  • Soft Tissue Swelling

    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]

  • Regurgitation

    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]

  • Premature Loss of Teeth

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

  • Large Ears

    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]

  • Dolichocephaly

    […] 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]

  • Genu Valgum

    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]

  • Bowing of The Long Bones

    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]

  • Absent Clavicle

    The differential diagnoses include cleidocranial dysplasia (associated with abnormal/absent clavicle), pyknodysostosis (an osteosclerotic condition), progeria (a syndrome of premature aging), and Rothmund-Thompson syndrome (a hereditary, benign skin condition [ijri.org]

  • Short Neck

    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]

  • Kidney Failure

    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]

Clinical Testing and Workup Common x-rays of the skull can reveal characteristic changes including open sutures and an abnormally flattened base of the skull. X-rays of the spine can show fractures and bone loss. [rarediseases.org]

Standard Therapies Treatment The treatment of Hajdu-Cheney syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Our results support a potential therapeutic role for Notch pathways in treatment of osteoporosis. Hum Mutat 32:1114–1117, 2011. 2011 Wiley‐Liss, Inc. [onlinelibrary.wiley.com]

[…] aplasia of the frontal sinuses J-shaped enlarged sella dolichocephaly platybasia with or without basilar invagination Spine kyphoscoliosis spondylolisthesis biconcave vertebrae Maxillofacial hypoplastic maxilla malalignment of teeth wide mandibular angle Treatment [radiopaedia.org]

Treatment is symptomatic. Bone antiresorptive and anabolic agents have been tried to treat the osteoporosis, but their benefit has not been established. Gene NOTCH2 gene, 1p12p11 (OMIM gene/locus number #600275 ). [iofbonehealth.org]

Gland, 22 Craniopharyngioma, 22 Definition, 22 Etiology, 22 Signs and symptoms, 22 Diagnosis, 22 Treatment, 22 Illustrations (Figs 2.1–2.3), 23 Hypothalamic dysgerminoma, 24 Definition, 24 Etiology, 24 Signs and symptoms, 24 Diagnosis, 24 Treatment, [euro-libris.ro]

[…] frontal sinuses J-shaped enlarged sella dolichocephaly platybasia with or without basilar invagination Spine kyphoscoliosis spondylolisthesis biconcave vertebrae Maxillofacial hypoplastic maxilla malalignment of teeth wide mandibular angle Treatment and prognosis [radiopaedia.org]

The treatment of the disorder is symptomatic and the prognosis is quite good, with the morbidity depending on the bone changes caused by acro-osteolysis and the neurological complications caused by basilar invagination. [ijri.org]

Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

(de Quervain’s thyroiditis), 6 Definition and epidemiology, 6 Etiology and pathogenesis, 6 Signs and symptoms, 6 Diagnosis, 6 Treatment, 6 Illustration (Fig. 1.7), 7 Benign thyroid nodules, 8 Definition and epidemiology, 8 Etiology and pathogenesis, [euro-libris.ro]

The acro-osteolysis has been variably attributed to either a vascular etiology [6] or defective development [4] leading to pseudo-osteolysis. [ijri.org]

Aagaard, Ida Vogel, Hans Gjørup, Michael Davidsen, Michel Bach Hellfritzsch, Eva Lauridsen & Pernille Axél Gregersen European Journal of Medical Genetics (2019) Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology [nature.com]

(de Quervain’s thyroiditis), 6 Definition and epidemiology, 6 Etiology and pathogenesis, 6 Signs and symptoms, 6 Diagnosis, 6 Treatment, 6 Illustration (Fig. 1.7), 7 Benign thyroid nodules, 8 Definition and epidemiology, 8 Etiology and pathogenesis, [euro-libris.ro]

Diagnosis, 77 Treatment, 77 Illustrations (Figs 4.1–4.5), 77–79 Skin diseases associated with diabetes, 80 Definition, 80 Etiology, 80 Signs and symptoms, 80 Diagnosis, 80 Treatment, 80 Illustrations (Figs 4.6 & 4.7), 80–81 Diabetic foot, 81 Definition, 81 Pathophysiology [euro-libris.ro]

Prevention of osteoporosis, vitamin D and bisphosphonates may also have a role 6. History and etymology It was first described as cranioskeletal dysplasia in 1948 by N Hajdu et al 1. [radiopaedia.org]

Some individuals have been treated with medications that prevent bone resorption in order to treat osteoporosis. Normally, bone gradually breaks down (bone resorption) and then reforms, a process called bone turnover. [rarediseases.org]

Treatment, 82 Illustrations (Figs 4.8–4.22), 82–86 Diabetic neuropathy, 87 Definition, 87 Etiology, 87 Diagnosis, 87 Treatment, 87 Illustrations (Figs 4.23 & 4.24), 88 Diabetic nephropathy, 89 Definition, 89 Etiology, 89 Signs and symptoms, 89 Diagnosis, 89 Prevention [euro-libris.ro]