In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Arachnodactyly that can help you solving undiagnosed cases.
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib
Related symptoms:
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).
Related symptoms:
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.
Related symptoms:
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPEGalloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).
Related symptoms:
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)
Related symptoms:
SOURCES: OMIM ORPHANET MENDELIAN
More info about DISTAL 16P11.2 MICRODELETION SYNDROMEAutosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.
BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome
Related symptoms:
SOURCES: ORPHANET OMIM MENDELIAN
More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROMECongenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).
Related symptoms:
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).
Related symptoms:
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)
Related symptoms:
SOURCES: ORPHANET MESH MENDELIAN
More info about 2Q24 MICRODELETION SYNDROMESymptoms // Phenotype | % cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Global developmental delay | Uncommon - Between 30% and 50% cases |
Hypertelorism | Uncommon - Between 30% and 50% cases |
Proteinuria | Uncommon - Between 30% and 50% cases |
Scoliosis | Uncommon - Between 30% and 50% cases |
Patients with Abnormal facial shape and Arachnodactyly. may also develop some of the following symptoms:
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Prominent nasal bridge, related diseases and genetic alterations Myopia and Severe global developmental delay, related diseases and genetic alterations Brachydactyly and Neurodegeneration, related diseases and genetic alterations Skeletal muscle atrophy and Short distal phalanx of finger, related diseases and genetic alterations Strabismus and Confusion, related diseases and genetic alterations