Downslanted palpebral fissures, and Waddling gait

Diseases related with Downslanted palpebral fissures and Waddling gait

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Waddling gait that can help you solving undiagnosed cases.

Top matches:

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Other less relevant matches:

High match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

High match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Waddling gait

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Seizures Microcephaly Ventriculomegaly Inability to walk Strabismus Growth delay Absent speech Hypertelorism Stereotypy Failure to thrive Flexion contracture Deeply set eye Neonatal hypotonia Talipes equinovarus Joint laxity Small hand Intellectual disability, severe Cryptorchidism Macrotia Long philtrum Low-set ears

Rare Symptoms - Less than 30% cases

Pointed chin Prominent forehead Brachycephaly Hyporeflexia Hypoplasia of the corpus callosum Dysphagia Muscular hypotonia Kyphoscoliosis Muscle weakness Wide mouth Poor speech Hypotelorism High, narrow palate Epicanthus Scoliosis Everted upper lip vermilion Acetabular dysplasia Narrow forehead Talipes Coarse facial features Abnormality of the foot Hypertonia Cerebellar atrophy Wide nasal bridge Shock Postnatal microcephaly Midface retrusion Abnormality of the cerebral white matter Spastic tetraplegia Tetraplegia Thick lower lip vermilion Short philtrum Abnormality of the skeletal system Feeding difficulties Tremor Ptosis Abnormality of the dentition Behavioral abnormality Dystonia Malar flattening Postnatal growth retardation Pes planus Proptosis Posteriorly rotated ears Skeletal dysplasia Multiple pterygia Calf muscle pseudohypertrophy Hand clenching Transient myeloproliferative syndrome Neck flexor weakness Abnormality of the rib cage Slender build Mitochondrial depletion Late-onset distal muscle weakness Type 1 muscle fiber predominance Severe hydrops fetalis Abnormality of the pinna Depressed nasal bridge Frontal bossing Ventricular septal defect Fetal akinesia sequence Atrial septal defect Cerebral atrophy Recurrent infections Hernia Encephalopathy Arrhythmia Inguinal hernia Delayed skeletal maturation Thin upper lip vermilion Nemaline bodies Multiple joint contractures EMG: neuropathic changes Foot dorsiflexor weakness Abnormality of the eye Hyperlordosis Distal muscle weakness Muscular dystrophy Arthrogryposis multiplex congenita Limb muscle weakness Falls Generalized muscle weakness Decreased fetal movement Frequent falls Large fontanelles Hydrops fetalis Respiratory insufficiency due to muscle weakness Cystic hygroma EMG: myopathic abnormalities Adducted thumb Pterygium Congenital contracture Akinesia Rocker bottom foot Myopathic facies Autistic behavior Mildly elevated creatine phosphokinase Pericardial effusion Bulbar palsy Spinal rigidity Muscular hypotonia of the trunk Underdeveloped nasal alae Pectus carinatum Thick eyebrow Premature coronary artery atherosclerosis Capillary malformation Abnormality of the nares Cardiogenic shock Abnormal head movements Abnormality of the forehead Minimal subcutaneous fat Enlarged naris Facial wrinkling Mandibular prognathia Aggressive behavior Blepharophimosis Narrow palate Torsade de pointes Narrow palpebral fissure Self-mutilation Hand tremor Kinetic tremor Ataxia Gait ataxia Narrow mouth Long face Prominent supraorbital ridges Large hands Myoclonus EEG abnormality Unilateral cryptorchidism Supraventricular tachycardia Lethargy Scrotal hypoplasia Tachycardia Osteopenia Highly arched eyebrow Facial palsy Fine hair Long eyelashes Sparse and thin eyebrow Low anterior hairline Microretrognathia Torticollis Ventricular tachycardia Cutis laxa Delayed gross motor development Thick upper lip vermilion Coarse hair Deep philtrum Redundant skin Broad hallux Delayed cranial suture closure Aplasia/Hypoplasia of the eyebrow Poor eye contact Pulmonary artery stenosis Short columella Ventricular extrasystoles Excessive daytime somnolence Shuffling gait Apnea Myopathy Proximal muscle weakness Short femoral neck Focal-onset seizure Generalized-onset seizure Prominent superficial veins Pachygyria Heterotopia Short toe Plagiocephaly Hypoplasia of the brainstem Toe walking Cortical dysplasia Broad palm Irregular vertebral endplates Hepatomegaly Everted lower lip vermilion Fever Macrocephaly Metaphyseal widening Hyperextensible skin Thrombocytopenia Elevated serum creatine phosphokinase Severe short stature Osteoporosis Hepatosplenomegaly Elevated hepatic transaminase Growth hormone deficiency Depressed nasal ridge Broad femoral neck Flat capital femoral epiphysis Rhizomelia Peripheral neuropathy Broad forehead Anxiety Facial asymmetry Gliosis Delayed myelination Hypothyroidism Sparse eyebrow Long fingers Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Gait disturbance Downturned corners of mouth Intrauterine growth retardation Delayed speech and language development Cognitive impairment Cerebellar hypoplasia Micrognathia Absent palmar crease Cigarette-paper scars Moderately short stature Thenar muscle atrophy Peripheral axonal neuropathy Polymicrogyria Flattened epiphysis Joint contracture of the hand Hoarse voice Polyhydramnios Spastic dysarthria Amblyopia Bruising susceptibility Narrow face Drooling Decreased muscle mass Long nose Progressive spastic paraplegia Abnormality of the periventricular white matter Overweight Genu recurvatum Facial hypotonia Generalized joint laxity Platyspondyly Bulbous nose Camptodactyly of finger Shyness Prominent antihelix Cleft palate Motor delay Dysarthria Respiratory insufficiency Edema Craniosynostosis Hypospadias Areflexia Micropenis Tapered finger Delayed eruption of teeth Short phalanx of finger Nystagmus Sacral dimple Epiphyseal dysplasia Metaphyseal dysplasia Protruding tongue Amelogenesis imperfecta Broad neck Premature skin wrinkling Beaking of vertebral bodies Toenail dysplasia Anterior pituitary hypoplasia Diaphyseal dysplasia Unexplained fevers Spasticity Paraplegia Hyperreflexia Abnormality of the metaphysis Thin skin Blue sclerae Babinski sign Cerebral cortical atrophy Short metacarpal Difficulty walking Dental malocclusion Bifid uvula Spastic paraplegia Hypodontia Delayed ability to walk


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