Scoliosis, and Short palpebral fissure

Diseases related with Scoliosis and Short palpebral fissure

In the following list you will find some of the most common rare diseases related to Scoliosis and Short palpebral fissure that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Medium match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Medium match MOGS-CDG


MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

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Other less relevant matches:

Medium match AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY


Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Medium match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Medium match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Medium match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Medium match CAMPOMELIC DYSPLASIA


Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Scoliosis and Short palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Scoliosis and Short palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Blepharophimosis

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Low-set ears Short stature Hearing impairment Failure to thrive Feeding difficulties Microcephaly Thick vermilion border Brachycephaly Delayed speech and language development Strabismus Muscular hypotonia Cleft palate Hypoplasia of the corpus callosum Kyphoscoliosis Short philtrum Autistic behavior Long philtrum Talipes Abnormality of the skeletal system Short neck Spasticity Kyphosis

Rare Symptoms - Less than 30% cases


Flexion contracture Cerebral atrophy Recurrent fractures Abnormality of the cerebral white matter Ptosis Prominent forehead Talipes equinovarus Downslanted palpebral fissures Nystagmus Cerebellar hypoplasia Hyporeflexia Narrow mouth Clinodactyly Wide nasal base Arthrogryposis multiplex congenita Respiratory insufficiency Hypertrichosis High forehead Hip dislocation Inguinal hernia Congestive heart failure Respiratory distress Depressed nasal bridge Wide intermamillary distance Abnormality of cardiovascular system morphology Abnormal heart morphology Low-set, posteriorly rotated ears Hypospadias Relative macrocephaly Intellectual disability, mild Flat face Long face Telecanthus Conductive hearing impairment Pectus excavatum Ventriculomegaly Motor delay Cryptorchidism Broad philtrum Edema Highly arched eyebrow Constipation Gastroesophageal reflux Narrow forehead Long fingers Gait ataxia Obsessive-compulsive behavior Upslanted palpebral fissure Hypertonia Proptosis Joint laxity Stereotypy Arachnodactyly Absent speech Craniosynostosis Wide mouth Hypotelorism Autism Ataxia Hyperactivity Small for gestational age Sensorineural hearing impairment Wide nasal bridge Shortening of all phalanges of fingers Umbilical hernia Hypoplastic inferior ilia Absent sternal ossification Severe global developmental delay Abnormality of the pinna Retinopathy Microtia Small abnormally formed scapulae Microcornea Full cheeks Nevus Abnormality of the skin Febrile seizures Hypoplastic cervical vertebrae Dandy-Walker malformation Abnormality of the face Hypoplasia of dental enamel Hypoplasia of olfactory tract Thickened skin Posteriorly rotated ears Cystic hygroma Hernia Pulmonary artery stenosis Cardiac arrest Coxa valga Coxa vara Hyperextensible skin Redundant skin Pyloric stenosis Aortic aneurysm Poorly ossified cervical vertebrae Rocker bottom foot Telangiectasia of the skin Keratoconus Anterior tibial bowing Prematurely aged appearance Aortic root aneurysm Hiatus hernia Microphthalmia Cardiorespiratory arrest Aortic dissection Esophagitis Myocarditis Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Arterial stenosis Femoral hernia Median cleft lip and palate Long palm Keratoglobus Abnormal carotid artery morphology Abnormality of the zygomatic bone Generalized hirsutism Tracheobronchomalacia Overfolded helix Cutis laxa Depressed nasal ridge Myocardial infarction Hydronephrosis Apnea Hypoplastic iliac wing Pierre-Robin sequence Narrow chest Male pseudohermaphroditism Shallow orbits Pulmonary hypoplasia Glossoptosis Tracheomalacia Webbed neck Ambiguous genitalia Bowing of the long bones Polyhydramnios Wide anterior fontanel Multicystic kidney dysplasia Short chin Disproportionate short-limb short stature Short long bone Fibular hypoplasia Laryngomalacia Pterygium Bowing of the legs Bilateral talipes equinovarus Thoracic hypoplasia Femoral bowing Tibial bowing Gonadal dysgenesis Skeletal dysplasia Severe short stature Laryngotracheomalacia Hypoplastic nipples Abnormal external genitalia Scrotal hypoplasia Optic nerve hypoplasia Thin ribs Abnormality of the sense of smell Neonatal short-limb short stature Tricuspid regurgitation Overlapping toe Abnormality of the musculature Narrow iliac wings Cerebellar vermis atrophy Hamartoma Neuroblastoma Irregular hyperpigmentation Hydrocephalus External ear malformation Skin dimples Lower limb asymmetry Periorbital fullness Broad eyebrow Small face Median cleft palate Upper limb asymmetry 11 pairs of ribs Sex reversal Abnormality of the scrotum Increased number of skin folds Localized neuroblastoma Hypoplastic scapulae Thin skin Multiple skeletal anomalies Specific learning disability Hyperreflexia Retrognathia Feeding difficulties in infancy Hepatic failure Wide nose Decreased antibody level in blood Long eyelashes Prominent occiput Thoracic scoliosis Hypoventilation Chronic constipation Overlapping fingers Generalized edema Hand clenching Atrial septal defect Abnormality of metabolism/homeostasis Poor speech Thick eyebrow Microretrognathia Cerebral palsy Prominent nasal tip Decreased palmar creases Brachydactyly Anteverted nares Cerebellar atrophy Babinski sign Cerebral cortical atrophy Coarse facial features Hepatosplenomegaly Alopecia Recurrent infections Inability to walk Self-injurious behavior Gait disturbance Behavioral abnormality Pes planus Anxiety Aggressive behavior Developmental regression Hyperlordosis Attention deficit hyperactivity disorder Pectus carinatum Abnormal cerebellum morphology Underdeveloped nasal alae Thick lower lip vermilion Postnatal microcephaly Frontal bossing Optic atrophy Agenesis of corpus callosum Sparse hair Broad forehead Astigmatism Bulbous nose Sleep disturbance Low posterior hairline Exotropia Large hands Overweight Turricephaly Long foot Hepatomegaly Camptodactyly Delayed eruption of teeth Hip dysplasia Aplasia/Hypoplasia of the ribs Hypsarrhythmia Heterotopia Gynecomastia Low anterior hairline Plagiocephaly Infantile muscular hypotonia Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Colpocephaly Talipes calcaneovalgus Periventricular gray matter heterotopia Phimosis Abnormality of the cerebral cortex Polymicrogyria Hypertension Myopia Fatigue Short nose Malar flattening Dilatation Clinodactyly of the 5th finger Respiratory failure Dyspnea Macrotia Hypertrophic cardiomyopathy Dilated cardiomyopathy Joint hyperflexibility High, narrow palate Dysmetria Macroglossia Facial palsy Neuronal loss in central nervous system Apraxia Dental crowding Broad face Growth delay Muscle weakness Cognitive impairment Fever Skeletal muscle atrophy Myopathy Midface retrusion Areflexia Proximal muscle weakness Abnormality of the foot Hypermetropia Downturned corners of mouth Generalized muscle weakness Open mouth Tented upper lip vermilion Congenital contracture Gowers sign Myopathic facies Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Obesity Hyperkeratosis Dolichocephaly Shortening of all phalanges of the toes



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Prominent nasal bridge, related diseases and genetic alterations Microphthalmia and Broad forehead, related diseases and genetic alterations Abnormality of the skeletal system and Situs inversus totalis, related diseases and genetic alterations Low-set ears and Ectodermal dysplasia, related diseases and genetic alterations Anemia and Renal cell carcinoma, related diseases and genetic alterations

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