Presenting problem: The patient is the first-born child of healthy, non-consanguineous parents. Pregnancy and delivery was normal with birth weight and length within normal limits for GA. After birth he presented with severe failure to thrive. [bone-abstracts.org]

Acronym SWILS Synonyms Microcephalic osteodysplastic dysplasia Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

CONCLUSIONS: Saul-Wilson syndrome presents a remarkably uniform phenotype, and the comprehensive description of our cohort allows for improved understanding of the long-term morbidity of the condition, establishment of follow-up recommendations for affected [research.regionh.dk]

Full size image Skeletal findings Representative skeletal features are presented in Fig. 4 and Supplementary Fig. S2. [nature.com]

ORPHA:85172 Classification level: Disorder Synonym(s): - Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q78.8 OMIM: 618150 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

• Recurrent Respiratory Infections

  Neutropenia makes it more difficult for the body to fight off foreign invaders such as bacteria and viruses, and may contribute to recurrent respiratory infections that occur in childhood in some individuals with Saul-Wilson syndrome. 2. [encyclopedia.pub]

  Neutropenia makes it more difficult for the body to fight off foreign invaders such as bacteria and viruses, and may contribute to recurrent respiratory infections that occur in childhood in some individuals with Saul-Wilson syndrome. [malacards.org]

• Weight Gain

  In particular, we hope that our detailed growth characterization will reduce morbidity resulting from unnecessarily aggressive nutritional interventions by well-intentioned physicians trying to promote weight gain, an unrealistic goal in this genetically-determined [research.ed.ac.uk]

  In particular, we hope that our detailed growth characterization will reduce morbidity resulting from unnecessarily aggressive nutritional interventions by well‐intentioned physicians trying to promote weight gain, an unrealistic goal in this genetically‐determined [x-mol.com]

• Short Finger

  Additional skeletal abnormalities in Saul-Wilson syndrome include abnormalities in the structure of the long bones, short fingers and toes, an inward- and downward-turning foot (clubfoot), an abnormality of the hip joint that causes a decreased angle [encyclopedia.pub]

  Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers [malacards.org]

• Hearing Impairment

  In the beginning his speech development was impaired. He is hearing impaired and ocular findings are blue sclerae, prominent eyes and cataracts. [bone-abstracts.org]

  Other Hearing loss, seen in the majority of affected individuals over time, can be conductive, sensorineural, or mixed. In one child hearing impairment associated with inner-ear malformations was detected on newborn hearing screen. MRI findings. [ncbi.nlm.nih.gov]

• Low Set Ears

  He presented with dysmorphic craniofacial features: low set ears, small dysplastic face with micrognathia, and narrow nasal bridge, contractures of the elbow and knees, clubfoot and short distal phalanges. [bone-abstracts.org]

• Sparse Hair

  hair and sparse eyebrows Prominent forehead with prominent scalp veins Enlargement and delayed closure of the anterior fontanelle (earliest known closure 21 months; still open at age 3 years in one child) Narrow nasal bridge with convex nasal ridge Prominent [ncbi.nlm.nih.gov]

• Sparse Hair

  hair and sparse eyebrows Prominent forehead with prominent scalp veins Enlargement and delayed closure of the anterior fontanelle (earliest known closure 21 months; still open at age 3 years in one child) Narrow nasal bridge with convex nasal ridge Prominent [ncbi.nlm.nih.gov]

• Sparse Eyebrows

  […] hair and sparse eyebrows Prominent forehead with prominent scalp veins Enlargement and delayed closure of the anterior fontanelle (earliest known closure 21 months; still open at age 3 years in one child) Narrow nasal bridge with convex nasal ridge Prominent [ncbi.nlm.nih.gov]

• Blue Sclera

  He is hearing impaired and ocular findings are blue sclerae, prominent eyes and cataracts. [bone-abstracts.org]

  Children with Saul-Wilson syndrome often have hearing loss, clouding of the lenses of the eyes (cataracts), or a blue tint to the whites of the eyes (blue sclerae). [encyclopedia.pub]

  […] whites of the eyes (blue sclerae). [malacards.org]

  Blue sclerae are seen during the first few months to years of life, but then disappear. Third, neutropenia was not appreciated in the first two months of life, but was seen in all tested individuals subsequently. [nature.com]

• Visual Impairment

  In the US, publicly funded agencies at the state level provide services for the visually impaired or those with progressive eye disorders; services include vocational training, mobility training, and skills for independent living. 4. 5. [ncbi.nlm.nih.gov]

• Brachydactyly

  Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers [malacards.org]

  Human genes for Saul-Wilson syndrome Saul-Wilson syndrome [DOID:0111673] A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts [diseases.jensenlab.org]

  Saul-Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly, bilateral cataracts, and hearing loss. [research.ed.ac.uk]

  Research Council, Grant/Award Number: MC_UU_00007/5 Abstract Saul–Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly [onlinelibrary.wiley.com]

• Platyspondyly

  Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while [malacards.org]

  […] of the long bones, short fingers and toes, an inward- and downward-turning foot (clubfoot), an abnormality of the hip joint that causes a decreased angle between the head and shaft of the upper leg bones (coxa vara), or flattened bones of the spine (platyspondyly [encyclopedia.pub]

  […] and short phalanges Accessory ossification centers of the proximal metacarpals Cone-shaped epiphyses of the phalanges Ivory epiphyses of the distal phalanges (in late childhood) Spine Hypoplasia of the odontoid process of C2 Hypoplasia of T12 or L1 Platyspondyly [ncbi.nlm.nih.gov]

• Coxa Vara

  vara), or flattened bones of the spine (platyspondyly) and other spinal abnormalities. [encyclopedia.pub]

• Small Hand

  Characteristics of Saul Wilson Syndrome include: Small head Prominent forehead Prominent eyes Flat cheek bones Narrow nose root Beaked nose Cataract Cone-shaped epiphyses Short digits Small hand Clubfoot Short stature Underdeveloped odontoid process Vertebral [littlepersonuniquelife.com]

  Small hands with short metacarpals and short phalanges Accessory ossification centers of the proximal metacarpals Cone-shaped epiphyses of the phalanges Ivory epiphyses of the distal phalanges (in late childhood) Spine Hypoplasia of the odontoid process [ncbi.nlm.nih.gov]

• Foot Deformity

  deformities (post clubfoot repair), osteoarticular pain; standard treatment for feeding issues, speech delay, cataracts and retinal dystrophy, and hearing loss. [scinapse.io]

  Musculoskeletal Skeletal dysplasia or physiatry clinic (orthopedics, OT/PT/ rehabilitation specialist) Address mobility issues in those w/residual foot deformities (post-club foot repair), osteoarticular pain. [ncbi.nlm.nih.gov]

• Beaked Nose

  Characteristics of Saul Wilson Syndrome include: Small head Prominent forehead Prominent eyes Flat cheek bones Narrow nose root Beaked nose Cataract Cone-shaped epiphyses Short digits Small hand Clubfoot Short stature Underdeveloped odontoid process Vertebral [littlepersonuniquelife.com]

  Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. [orpha.net]

  Individuals with Saul-Wilson syndrome have distinctive facial features that often include a prominent forehead, sparse scalp hair and eyebrows, prominent scalp veins, a narrow nasal bridge, a beaked nose, a wide area separating the nostrils (broad columella [encyclopedia.pub]

  nose, a wide area separating the nostrils (broad columella), a thin upper lip, and a small lower jaw (micrognathia). [malacards.org]

• Seizure

  Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky–Pudlak syndrome. Blood. 2016;127:997–1006. CAS Article Google Scholar 32. Benson KF, Li F-Q, Person RE, et al. [nature.com]

[…] foot deformities (post clubfoot repair), osteoarticular pain; standard treatment for feeding issues, speech delay, cataracts and retinal dystrophy, and hearing loss. [scinapse.io]

Due to two severe femur fractures treatment with bisphosphonate and zoledronic acid was initiated. [bone-abstracts.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

“Knowing the underlying cause of the condition is a major step forward for these individuals and could help scientists find a treatment for the disease.” [around.uoregon.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

PURPOSE: Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. [research.regionh.dk]

Abstract Purpose Four patients with Saul–Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. [nature.com]

In 2018 Ferreira et al identified the pathophysiological mechanism for SWS as a recurrent De Novo Heterozygous COG4 Substitution. Objective: To describe the diagnostic process in a case of SWS. [bone-abstracts.org]

The glycosylation of a secreted proteoglycan, which normally takes place in the Golgi apparatus, was found to be impaired.5 Although the aforementioned work provides insight into the pathophysiology of the disease, a comprehensive clinical characterization [nature.com]

C2 subluxation &/or spinal cord compression, follow best practices in perioperative mgmt of those w/skeletal dysplasias. 1 Cataract / Retinal dystrophy Standard treatment(s) as recommended by ophthalmologist Cataracts: Consider surgery when dense to prevent [ncbi.nlm.nih.gov]