[…] of the long bones ; Broad long bones ; Camptodactyly ; Cleft palate ; Encephalocele ; Equinovarus deformity ; Flat face ; Glaucoma ; Hirsutism ; Hydrocephalus ; Joint contracture of the hand ; Lens luxation ; Limitation of joint mobility ; Malar flattening [mousephenotype.org]

Showing of 30 Percent of people who have these symptoms is not available through HPO Adducted thumb Inward turned thumb 0001181 Advanced ossification of carpal bones 0004233 Autosomal recessive inheritance 0000007 Bowing of the long bones Bowed long bones [rarediseases.info.nih.gov]

In addition to being bowed, the long tubular bones are short and broad, with marked metaphyseal flaring. [rrnursingschool.biz]

[…] of the long bones (camptomelia) and micromelia. [sonoworld.com]

[…] of the long bones Small face Low-set, posteriorly rotated ears Lumbar hyperlordosis Joint hyperflexibility Deeply set eye Bifid uvula Patent ductus arteriosus Disproportionate short-limb short stature Postaxial hand polydactyly Generalized hypotonia [mendelian.co]

European Journal Of Pediatrics. 155(12): 1040-1042, 1996 Dyssegmental dysplasia: short-trunk, short-limb dwarfism with anisospondyly. A case report. Journal of Bone and Joint Surgery. [eurekamag.com]

The patient delivered a still-born female weighing 867 g, with externally short trunk, neck, and limbs, and camptomelia (Figure 2). [dev.docslide.net]

Dyssegmental dysplasia: short-trunk, short limb dwarfism with anisospondyly. A case report. J Bone Joint Surg 1994; 76: 1551-6. 7.Hirasawa EA, Wilcox WR, Le AH, Silverman N, Gorindraj P, Hassell JR, et al. [jpma.org.pk]

trunk and long limbs) and a final short stature in adulthood. [mendelian.co]

They have short trunk and, in relationship to the spinal length, long extremities. The shortening of the spine in Morquio syndrome is primarily a result of platyspondyly. [musculoskeletalkey.com]

Abstract The dyssegmental dysplasia is a lethal form of neonatal short-limbed dwarfism in which unusual facies, short neck, narrow thorax, cleft palate, and reduced joint mobility are the characteristic commonly seen. [unboundmedicine.com]

An ultrasound study done at 24 weeks of gestation showed short limbs and a narrow thorax. The couple opted to continue the pregnancy this time and a male baby was born at 39 weeks of gestation with good apgars. [jpma.org.pk]

Limited joint mobility Limited joint motion [ more ] 0001376 Malar flattening Zygomatic flattening 0000272 Metaphyseal widening Broad wide portion of long bone 0003016 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Micromelia [rarediseases.info.nih.gov]

Muscle stiffness, muscle weakness, and skeletal abnormalities may worsen gradually or remain essentially stable. Morbidity and mortality SJS type IA does not significantly shorten lifespan. [img.medscape.com]

The proband had hypertrichosis with short and bent limbs with reduced mobility. Svejcar (1983) found abnormal gel electrophoretic patterns of collagen peptides, pointing to a deficiency in alpha-1 chains. [cags.org.ae]

Hypertrichosis was found in both cases. The limbs were short and bent with reduced mobility. Maroteaux et al. (1996) described 2 patients with a disorder related to but probably distinct from dyssegmental dysplasia. [omim.org]

[…] chondrodysplasia GMS syndrome Geleophysic dysplasia Geroderma osteodysplastica Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome Hennekam-Beemer syndrome Hereditary hypophosphatemic rickets with hypercalciuria Hoyeraal-Hreidarsson syndrome Hypertrichosis [se-atlas.de]

[…] palpebral fissure with normal eyelid development Unusual facies characterized by a puckered facial appearance Small muscle mass and joint deformities - Eg, coxa valga, irregularity of the capital femoral epiphyses, pectus carinatum ("pigeon breast") Hypertrichosis [img.medscape.com]

[…] sacrosciatic notches Neurologic Central Nervous System: hydrocephalus encephalocele (single case) Head And Neck Face: micrognathia flat face round face midface hypoplasia Head And Neck Eyes: glaucoma shallow orbits dislocated lens Skin Nails Hair Hair: hirsutism [malacards.org]

[…] genetic Phenotypes Adducted thumb ; Advanced ossification of carpal bones ; Autosomal recessive inheritance ; Bowing of the long bones ; Broad long bones ; Camptodactyly ; Cleft palate ; Encephalocele ; Equinovarus deformity ; Flat face ; Glaucoma ; Hirsutism [mousephenotype.org]

[…] bones Widened long bones [ more ] 0005622 Camptodactyly Permanent flexion of the finger or toe 0012385 Cleft palate Cleft roof of mouth 0000175 Encephalocele 0002084 Equinovarus deformity 0008110 Flat face Flat facial shape 0012368 Glaucoma 0000501 Hirsutism [rarediseases.info.nih.gov]

The baby also had significant hirsutism though there was no cleft palate (Figure 1 and 2). Cardiovascular, ophthalmological examination and renal ultrasounds were normal. Radiographs showed short and thick tubular bones with bulbous ends. [jpma.org.pk]

It is characterized by irregular-sized vertebral bodies due to spinal segmental abnormalities and a distinct facial appearance, micrognathia, short neck, narrow chest, and cleft palate. [deepdyve.com]

Symptoms via clinical synopsis from OMIM: 58 Head And Neck Neck: short neck Head And Neck Mouth: cleft palate Chest External Features: narrow chest Skeletal Hands: camptodactyly adducted thumbs accelerated carpal bone maturation short, broad tubular bones [malacards.org]

Malar flattening ; Metaphyseal widening ; Micrognathia ; Micromelia ; Midface retrusion ; Narrow chest ; Narrow greater sacrosciatic notches ; Neonatal short-limb short stature ; Round face ; Severe short stature ; Shallow orbits ; Short long bone ; Short [mousephenotype.org]

neck Decreased length of neck 0000470 Short ribs 0000773 Showing of 30 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Abstract The dyssegmental dysplasia is a lethal form of neonatal short-limbed dwarfism in which unusual facies, short neck, narrow thorax, cleft palate, and reduced joint mobility are the characteristic commonly seen. [unboundmedicine.com]

face midface hypoplasia Head And Neck Eyes: glaucoma shallow orbits dislocated lens Skin Nails Hair Hair: hirsutism Skeletal Feet: equinovarus deformity short, broad tubular bones Growth Height: dwarfism, neonatal short-limbed Skeletal Spine: variable [malacards.org]

face ; Severe short stature ; Shallow orbits ; Short long bone ; Short neck ; Short ribs Associated Genes - Mouse Orthologs - Source OMIM:224400 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols [mousephenotype.org]

face Circular face Round facial appearance Round facial shape [ more ] 0000311 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Shallow orbits Decreased depth of eye sockets Shallow eye sockets [ more ] 0000586 [rarediseases.info.nih.gov]

The infant has malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly). [cags.org.ae]

[…] brachydactyly Mental retardation syndrome with preaxial brachydactyly Optic atrophy sensorineural hy per phalangism deafness and BLS 2 dysphalangism Immunodeficiency isolated hearing loss and polyneuropathy orodental anomalies polyneuropathy and deafness [yumpu.com]