Skeletal muscle atrophy, and Malar flattening

Diseases related with Skeletal muscle atrophy and Malar flattening

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Malar flattening that can help you solving undiagnosed cases.


Top matches:

Medium match PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY


PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY


Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY Is also known as bone fragility-contractures-arterial rupture-deafness syndrome|lh3 deficiency|connective tissue disorder due to lh3 deficiency|lysyl hydroxylase 3 deficiency

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1


SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A


De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Medium match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Medium match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Malar flattening

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Skeletal muscle atrophy and Malar flattening. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Seizures Micrognathia Abnormality of the skeletal system Macrotia Hyperreflexia Low-set ears Spasticity Muscle weakness Depressed nasal bridge Myopathy Intellectual disability, mild Pain Intellectual disability, severe Narrow mouth Brachycephaly Myopia Talipes equinovarus Osteopenia Protruding ear Flexion contracture Intrauterine growth retardation Pectus excavatum Nystagmus Failure to thrive Babinski sign Long philtrum Upslanted palpebral fissure Sensorineural hearing impairment Delayed skeletal maturation Short nose Pectus carinatum Postnatal growth retardation Epicanthus Inguinal hernia Scarring Severe short stature Elbow flexion contracture Osteoporosis Hypertelorism Distal amyotrophy Abnormality of the pinna Cryptorchidism Agenesis of corpus callosum Immunodeficiency Umbilical hernia Kyphosis Mandibular prognathia Gait disturbance Behavioral abnormality Absent speech Short neck Triangular face Ptosis Muscular hypotonia Thin vermilion border Delayed speech and language development Ataxia Hypoplasia of the corpus callosum Strabismus Hydrocephalus Otitis media

Rare Symptoms - Less than 30% cases


Wide nasal bridge Sparse hair Cleft palate Abnormality of the foot Pes planus Abnormality of the nervous system Feeding difficulties in infancy Joint stiffness Severe global developmental delay Spastic paraplegia Paraplegia Prominent forehead Long face Cerebral calcification Clonus Athetosis Bowel incontinence Hypoplasia of the musculature Neoplasm Narrow face Severe intrauterine growth retardation Frontal bossing Poor suck Areflexia Macrocephaly Abnormality of the rib cage Mild short stature Neurodevelopmental delay High palate Hypoplasia of the maxilla Broad forehead Hypermetropia Ventricular septal defect Atrial septal defect Microphthalmia Cerebral atrophy Pes cavus Diabetes mellitus Gait ataxia Hip contracture Ventriculomegaly Skeletal dysplasia Hypospadias Posteriorly rotated ears Corneal opacity High forehead Anxiety Kyphoscoliosis Camptodactyly Genu valgum Blepharophimosis Decreased testicular size Bowing of the long bones Joint contracture of the hand Congenital hip dislocation Hypothyroidism Neurodegeneration Hip dysplasia Hernia Proptosis Generalized tonic-clonic seizures CNS hypomyelination Hepatomegaly Platyspondyly Talipes Flat face Downturned corners of mouth Leukodystrophy Narrow forehead Thin upper lip vermilion Inability to walk Deeply set eye Bulbous nose Arachnodactyly Overfolded helix Hyporeflexia Downslanted palpebral fissures Dysarthria Hypertonia Motor delay Feeding difficulties Full cheeks Thoracolumbar kyphosis Synovitis Conductive hearing impairment Autism Hypogonadism Oligosacchariduria Spondylolysis Prominent superficial blood vessels Peripheral neuropathy Anemia Aggressive behavior Spastic paraparesis Increased vertebral height Osteolysis Increased hepatic glycogen content Generalized abnormality of skin Synostosis of joints Developmental regression Vacuolated lymphocytes Nevus Gynecomastia Cranial hyperostosis Thickened skin Hypergonadotropic hypogonadism Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Bradykinesia Abnormality of the gingiva Long ear Abnormal pyramidal sign Short distal phalanx of finger Retinal thinning Cerebral dysmyelination Decreased pulmonary function Abnormal echocardiogram Synophrys Paraparesis Congenital cataract Knee flexion contracture Prominent nasal bridge Narrow chest Corneal arcus Hypoargininemia Decreased fetal movement Hyperammonemia Cutis laxa Opacification of the corneal stroma Wormian bones Wide anterior fontanel Large fontanelles Thin skin Fine hair Blue sclerae Hypotelorism Hyperextensible skin Underdeveloped nasal alae Joint hypermobility Abnormality of skin pigmentation Hip dislocation Synovial hypertrophy Joint laxity Difficulty walking Flattened moderately deformed vertebrae Respiratory failure Adducted thumb Progressive joint destruction Hypoplastic inferior ilia Narrow nasal ridge Polar cataract Craniofacial hyperostosis Wide cranial sutures Abnormality of the ilium Abnormality of joint mobility Antineutrophil antibody positivity Dermal translucency Calcaneovalgus deformity Abnormality of dental structure Excessive wrinkled skin Redundant skin Overlapping fingers Premature skin wrinkling Progeroid facial appearance Severe failure to thrive Subcapsular cataract Prematurely aged appearance Thin ribs Reduced subcutaneous adipose tissue Congenital glaucoma Multiple joint contractures Abnormal cornea morphology Hydrocele testis Spondylolisthesis Hepatosplenomegaly Retinal degeneration Confusion Dysmetria Prominent supraorbital ridges Abnormality of the cerebral white matter Neurological speech impairment Respiratory tract infection Chronic otitis media Mental deterioration Arthritis Patent ductus arteriosus Highly arched eyebrow Recurrent respiratory infections Depressivity Recurrent infections Splenomegaly Heart murmur Abnormality of the dentition Cerebellar atrophy Optic atrophy Cognitive impairment Superiorly displaced ears Thick eyebrow Macroglossia Flat occiput Low anterior hairline Tall stature Progressive neurologic deterioration Hypertrichosis Amblyopia Gingival overgrowth Depressed nasal ridge Limb ataxia Hallucinations Spastic gait Psychosis Narrow palate Increased intracranial pressure Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Recurrent bacterial infections Decreased antibody level in blood Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Widely spaced teeth Calcification of the auricular cartilage Bowing of the legs Abnormality of the helix Mixed hearing impairment Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Delusions Striae distensae Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Truncal obesity Progressive gait ataxia Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Impaired smooth pursuit Dysostosis multiplex Plagiocephaly Reduced ejection fraction Thoracic kyphosis Broad face Open bite Patellar dislocation Femoral bowing Abnormality of the sternum Thickened calvaria Bronchitis Increased size of the mandible Absent facial hair Limb dystonia Aseptic necrosis Severe sensorineural hearing impairment Posterior scalloping of vertebral bodies Torus palatinus Dystrophic fingernails Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Coarse facial features Temperature instability Visual loss Urinary incontinence Intellectual disability, progressive Type I diabetes mellitus Muscle stiffness Bilateral single transverse palmar creases Involuntary movements Choreoathetosis Open mouth Interphalangeal joint contracture of finger Spastic tetraplegia Increased serum lactate Generalized muscle weakness Poor head control Tetraplegia Abnormality of movement Camptodactyly of finger Irritability Neonatal hypotonia Dystonia Arterial rupture Decreased palmar creases J-shaped sella turcica Thenar muscle atrophy Drooling Myopathic facies Hypoplasia of the capital femoral epiphysis Prominent antihelix Wide nose Muscular dystrophy Leukemia Small for gestational age Micropenis Cerebellar hypoplasia Clinodactyly Underfolded superior helices Stahl ear Abnormal conjugate eye movement Increased thyroid-stimulating hormone level Hallux valgus Rotary nystagmus Delayed CNS myelination Abnormality of the neck Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Hyperactive deep tendon reflexes Biparietal narrowing Generalized amyotrophy Aphasia Diaphragmatic eventration Porencephalic cyst Generalized myoclonic seizures Congestive heart failure Cirrhosis Abnormality of the liver Hypertrophic cardiomyopathy Carcinoma Myalgia Proximal muscle weakness Elevated hepatic transaminase Hypoglycemia Elevated serum creatine phosphokinase Obesity Cardiomyopathy Broad nasal tip Long toe Global brain atrophy Mutism Progressive microcephaly Postnatal microcephaly Brain atrophy Thick vermilion border Smooth philtrum Muscular hypotonia of the trunk Cerebral cortical atrophy Hepatic failure Cardiomegaly Shallow orbits Micronodular cirrhosis Dilatation of the cerebral artery Pathologic fracture Hemiplegia Coarse hair Bilateral sensorineural hearing impairment Nail dysplasia Bruising susceptibility Dilatation Ketotic hypoglycemia Periportal fibrosis Skeletal myopathy Epistaxis Recurrent corneal erosions Ketosis Recurrent sinusitis Progressive hearing impairment Hyperlipidemia Sinusitis Decreased liver function Hepatic fibrosis Progressive muscle weakness Hypertriglyceridemia Ventricular hypertrophy Renal cyst Dandy-Walker malformation Vomiting Coloboma Abnormality of the hair Situs inversus totalis Renal hypoplasia Abnormality of the ribs Tetralogy of Fallot Prominent nose High, narrow palate Iris coloboma Anal atresia Short philtrum Alopecia Nasal speech Clinodactyly of the 5th finger Abnormal heart morphology Blindness Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Pursed lips Cachexia Failure to thrive in infancy Talipes valgus Broad columella Respiratory insufficiency Tremor Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Phimosis Moderately short stature Macrodontia Anteverted ears Thin eyebrow Chorioretinal coloboma Heterotaxy Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Spastic diplegia Cupped ear Percussion myotonia Flexion contracture of toe Amenorrhea Acute lymphoblastic leukemia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Acute leukemia Multiple renal cysts Combined immunodeficiency Fever Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Ambiguous genitalia Oligohydramnios Hypertension Dysphagia Spinal deformities Sleep apnea Weak voice Wrist flexion contracture Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm Malignant hyperthermia High pitched voice Skeletal muscle hypertrophy Myotonia Metaphyseal widening Narrow palpebral fissure Respiratory distress Coxa vara Coxa valga Generalized hirsutism EMG abnormality Abnormal autonomic nervous system physiology Lumbar hyperlordosis Microcornea Recurrent fractures Apnea Rigidity Hyperhidrosis Spinocerebellar tract disease in lower limbs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Lissencephaly, related diseases and genetic alterations Hepatomegaly and Interphalangeal joint contracture of finger, related diseases and genetic alterations Hepatomegaly and Vomiting, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more