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]

• Short Stature

  MedlinePlus Genetics : 43 Saul-Wilson syndrome is characterized by short stature (dwarfism) and other skeletal abnormalities. [malacards.org]

  CLINICAL CHARACTERISTICS: Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. [scinapse.io]

  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]

  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]

  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 [uniprot.org]

• Developmental Delay

  OMIM® : 57 Saul-Wilson syndrome is a rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. [malacards.org]

  The UO-produced zebrafish mimicked the short stature, developmental delays and other affects characteristic of the disease. “Children with Saul-Wilson syndrome and their parents live with many unanswered questions,” said Dr. Carlos R. [around.uoregon.edu]

  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]

  Definition A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. [uniprot.org]

  And the cause of the syndrome -- characterized by short stature, microcephaly (small head), hearing loss and early developmental delays -- remained unknown. Today, these individuals have answers. [sciencedaily.com]

• Collapse

  This altered steady-state equilibrium led to a decrease in Golgi volume, as well as morphologic abnormalities with collapse of the Golgi stacks. [ambrygen.com]

  Immunofluorescence showed that nearly half of SWS patient fibroblasts had abnormal Golgi morphology characterized by collapsed stacks, while control fibroblasts had over 93% normal Golgi stacks. [micropublication.org]

  Patients’ fibroblasts demonstrated accelerated retrograde Golgi-to-ER vesicular trafficking, while at the same time showing delayed anterograde ER-to-Golgi trafficking, leading to disruption of the Golgi apparatus, with decreased volume and stack collapse [nature.com]

• 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]

  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) and other [malacards.org]

• 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]

• Coxa Valga

  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]

  Note coxa valga, overtubulation of the long bones, and lucencies of the proximal femora. B. [ncbi.nlm.nih.gov]

  X-ray of the hip and knee joints of the proband 1: 1 - dysplastic changes in the acetabulum; 2 - coxa valga; 3 - thin diaphysis of the femur; 4 - hypertubulation of the femur Download (98KB) Indexing metadata 6. Figure: 6. [journals.eco-vector.com]

• 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]

  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 of [ncbi.nlm.nih.gov]

• Atlanto-Axial Instability

  Agents/circumstances to avoid: Participation in gymnastics and jumping on a trampoline until atlanto-axial instability is excluded. GENETIC COUNSELING: SWS is an autosomal dominant disorder typically caused by a de novo pathogenic variant. [scinapse.io]

  Agents/circumstances to avoid: Participation in gymnastics and jumping on a trampoline until atlanto-axial instability is excluded. Diagnosis Formal diagnostic criteria for Saul-Wilson syndrome have not been established. [ncbi.nlm.nih.gov]

• Small Head

  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]

  And the cause of the syndrome -- characterized by short stature, microcephaly (small head), hearing loss and early developmental delays -- remained unknown. Today, these individuals have answers. [sciencedaily.com]

• Hearing Impairment

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

  In one child hearing impairment associated with inner-ear malformations was detected on newborn hearing screen. MRI findings. Ventriculomegaly was seen in 5/9 and spinal cord syrinx in 1/4 individuals. [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]

• 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]

• Frontal Bossing

  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]

  Affiliated tissues include eye, retina and bone, and related phenotypes are frontal bossing and cataract Disease Ontology : 12 A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, [malacards.org]

• Narrow 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]

[…] 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]