Ptosis, and Macroglossia

Diseases related with Ptosis and Macroglossia

In the following list you will find some of the most common rare diseases related to Ptosis and Macroglossia that can help you solving undiagnosed cases.


Top matches:

Medium match MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY


Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Medium match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Medium match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

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Other less relevant matches:

Medium match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Medium match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Medium match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Medium match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Medium match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Medium match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Ptosis and Macroglossia

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

Patients with Ptosis and Macroglossia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Cognitive impairment Thick lower lip vermilion Macrocephaly Hepatomegaly Abnormality of the kidney Cryptorchidism Short stature Coarse facial features Low-set ears Feeding difficulties High palate Microcephaly Gastroesophageal reflux Delayed skeletal maturation Growth delay Scoliosis Osteopenia Hearing impairment High forehead Open mouth Wide mouth Thick vermilion border Respiratory distress Hypertelorism Short nose Myopathy Hernia Inguinal hernia Wide nasal bridge Short neck Abnormality of the cardiovascular system Low-set, posteriorly rotated ears Cleft palate Narrow forehead Apnea Absent speech Micropenis Renal insufficiency Infantile muscular hypotonia Posteriorly rotated ears Dolichocephaly Intellectual disability, moderate Widely spaced teeth Protruding tongue Hypospadias Hypertrophic cardiomyopathy Obesity Malar flattening Cardiomyopathy Long philtrum Congestive heart failure Talipes equinovarus Kyphoscoliosis Flexion contracture Neoplasm Postural instability Cardiomegaly Hoarse voice Cerebral cortical atrophy Elevated serum creatine phosphokinase Hyperlordosis Respiratory insufficiency Motor delay Constipation Visual impairment Delayed speech and language development Pes planus

Rare Symptoms - Less than 30% cases


Generalized muscle weakness Decreased plasma carnitine Pneumonia Smooth philtrum High, narrow palate Ascites Hypoplasia of penis Tented upper lip vermilion Large for gestational age Cataract Neurodevelopmental delay Hepatosplenomegaly Thick upper lip vermilion Hydrocephalus Kyphosis Pes cavus Severe short stature Umbilical hernia Attention deficit hyperactivity disorder Corneal opacity Downslanted palpebral fissures Polyhydramnios Patent ductus arteriosus Abnormality of the genital system Retrognathia Lumbar hyperlordosis Respiratory insufficiency due to muscle weakness Pectus carinatum Microtia Broad forehead Neurological speech impairment Webbed neck Polycystic kidney dysplasia Hypothyroidism Radial deviation of finger Frontal bossing Triangular nasal tip Edema Myalgia Tetraplegia Cerebral atrophy Acidosis Strabismus Intellectual disability, progressive Recurrent otitis media Full cheeks Abnormal heart morphology Osteoporosis Joint laxity Feeding difficulties in infancy Irritability Large earlobe Pulmonic stenosis Joint hyperflexibility Sleep disturbance Soft skin Intellectual disability, mild Arnold-Chiari type I malformation Mitral valve prolapse Pointed chin Hypoplastic toenails Abnormality of dental enamel Abnormality of the fingernails Cutis laxa Abnormal dermatoglyphics Arnold-Chiari malformation Failure to thrive in infancy Pectus excavatum Abnormality of the dentition Type II diabetes mellitus Genu valgum Areflexia Incoordination Mild short stature Obstructive sleep apnea Sensorineural hearing impairment Spasticity Hyperreflexia Hypertonia Midface retrusion Hypogonadism Vesicoureteral reflux Atrial septal defect Renal hypoplasia Narrow face Increased body weight Muscle weakness Bilateral cryptorchidism Paroxysmal bursts of laughter Hypertension Dysarthria Myopia Ventricular septal defect Ventricular hypertrophy Overgrowth Redundant skin Telecanthus Tremor Paralysis Wide nose Cerebellar hypoplasia Prominent forehead Hyperactivity Respiratory failure Recurrent respiratory infections Arrhythmia Hepatic fibrosis Thick eyebrow Highly arched eyebrow Splenomegaly Abnormality of the pinna Abnormality of the foot Apraxia Sparse hair Brachydactyly Dysphagia Fatigue Gait disturbance Pain Abnormality of cardiovascular system morphology Stroke Hypoglycemia Small nail Hypertrichosis Long eyelashes Ataxia Agenesis of corpus callosum Central apnea Infantile hypercalcemia Abnormality of the gastric mucosa Ulnar deviation of the wrist Duodenal ulcer Lymphangiectasis Abnormal pulmonary valve morphology Congenital neuroblastoma Bladder neoplasm Capillary malformation Thickened Achilles tendon Renovascular hypertension Triangular mouth Melena Abnormal social behavior Systolic heart murmur Flat cornea Hematemesis Nocturia Increased corneal curvature Supravalvular aortic stenosis Deep plantar creases Intrauterine growth retardation Thin nail Behavioral abnormality Impaired visuospatial constructive cognition Body odor Alveolar rhabdomyosarcoma Bladder carcinoma Abnormality of the bladder Coronary artery stenosis Choroid plexus papilloma Cardiomyocyte hypertrophy Loose anagen hair Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Macrocephaly at birth Deep-set nails Vestibular Schwannoma Frontal hirsutism Renal artery stenosis Ganglioneuroblastoma Transitional cell carcinoma of the bladder Postprandial hyperglycemia Enlarged cerebellum Papilloma Retinal arteriolar tortuosity Myofiber disarray Hyperacusis Pelvic kidney Concentric hypertrophic cardiomyopathy Vitreomacular adhesion Tendon rupture Hypopnea Shyness Synostosis of joints Food intolerance Large face Pneumothorax Bronchomalacia Rhabdomyolysis Megalencephaly Fragile nails Thickened nuchal skin fold Overfriendliness Microscopic hematuria Severe postnatal growth retardation Neonatal hypoglycemia Syringomyelia Central hypotonia Early onset of sexual maturation Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Neuroblastoma Progeroid facial appearance Curly hair Keratoconus Reduced subcutaneous adipose tissue Rocker bottom foot Tricuspid regurgitation Hyperglycemia Dyssynergia Heart murmur Stellate iris Functional abnormality of male internal genitalia Pleural effusion Descending aorta hypoplasia Aortic aneurysm Vocal cord dysfunction Barrel-shaped chest Woolly hair Fetal distress Unilateral renal hypoplasia Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Clinodactyly of the 5th finger Concave nail Hypoplasia of teeth Fasting hypoglycemia Calcification of the aorta Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Myxomatous mitral valve degeneration Achilles tendon contracture Deep palmar crease Abnormal carotid artery morphology Labial hypoplasia Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Redundant neck skin Abnormality of the testis Lack of skin elasticity Verrucae Large forehead Thyroid hemiagenesis Nystagmus-induced head nodding Depressivity Dyslexia Diabetes mellitus Obsessive-compulsive behavior Peptic ulcer Abnormality of the voice Nephritis Chronic otitis media Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Portal hypertension Unilateral renal agenesis Abnormal renal morphology Abnormality of dental morphology Tracheoesophageal fistula Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Periorbital edema Precocious puberty Polyuria Adducted thumb Progressive hearing impairment Bicuspid aortic valve Sacral dimple Ischemic stroke Schizophrenia Reduced bone mineral density Abnormality of pelvic girdle bone morphology Radioulnar synostosis Polycystic ovaries Dysphonia Hypercalciuria Cholelithiasis Hypercalcemia Rectal prolapse Glucose intolerance Periorbital fullness Nephrocalcinosis Chronic constipation Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Right ventricular hypertrophy Pulmonary artery stenosis Tubulointerstitial nephritis Abnormality of the neck Abnormality of the cerebral vasculature Abnormality of refraction Cerebral ischemia Enuresis Abnormality of the vasculature Poor coordination Loss of consciousness High hypermetropia Open bite Hallux valgus Premature graying of hair Gait imbalance Vertebral segmentation defect Celiac disease Prematurely aged appearance Nevus flammeus Facial cleft Restlessness Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Spina bifida occulta Hemivertebrae Obsessive-compulsive trait Nausea and vomiting Joint stiffness Craniosynostosis Blepharophimosis Scarring Abnormal cardiac septum morphology Small for gestational age Carious teeth Protruding ear Malabsorption Dysmetria Oral cleft Everted lower lip vermilion Hypodontia Broad nasal tip Autistic behavior Developmental regression Chest pain Tubulointerstitial abnormality Aortic arch aneurysm Abdominal pain Glaucoma Autism Villous atrophy Macrotia Arthralgia Cleft lip Abnormality of the ankles Vascular tortuosity Colonic diverticula Anxiety Renal duplication Proteinuria Sudden cardiac death Dental malocclusion Arterial stenosis Gingival overgrowth Pyloric stenosis Recurrent urinary tract infections Nephrolithiasis Amblyopia Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Involuntary movements Phonophobia Aortic valve stenosis Increased bone mineral density Hypogonadotrophic hypogonadism Abnormality of nervous system morphology Dysgraphia Increased nuchal translucency Abnormal form of the vertebral bodies Esotropia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Otitis media Renal agenesis Microdontia Dehydration Tetralogy of Fallot Hypotelorism Mitral regurgitation Thyroid hypoplasia Abnormality of extrapyramidal motor function Coarctation of aorta Hypsarrhythmia Retinal vascular tortuosity Myocardial infarction Hemiparesis Overriding aorta Low anterior hairline Hyperextensible skin Stroke-like episode Ragged-red muscle fibers Myopathic facies Neck muscle weakness Mitochondrial myopathy Anemia Severe lactic acidosis Increased serum pyruvate Firm muscles Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Pelvic girdle muscle weakness Wolff-Parkinson-White syndrome Increased serum lactate Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Emphysema Nasal speech Atrioventricular block Delayed gross motor development Atherosclerosis Macular degeneration Scapular winging EMG abnormality Aspiration Waddling gait Hepatic failure Cytochrome C oxidase-negative muscle fibers Hypochromic anemia Status epilepticus Congenital diaphragmatic hernia Specific learning disability Round face Abdominal distention Flat face Muscular hypotonia of the trunk Hydronephrosis Deeply set eye Facial palsy Neurocytoma Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Asymmetry of the thorax Lactic acidosis Supernumerary nipple Congenital cataract Talipes Bruising susceptibility Dental crowding Short toe Spina bifida Aplasia/Hypoplasia of the eyebrow Hypochromic microcytic anemia Microcytic anemia Underdeveloped supraorbital ridges Myelomeningocele Osteosarcoma Brain neoplasm Aplasia/Hypoplasia of the earlobes Progressive muscle weakness Increased muscle lipid content Tall stature Long face Occipital encephalocele Molar tooth sign on MRI Hypoplasia of the brainstem Chorioretinal coloboma Tachypnea Oculomotor apraxia Heterotopia Encephalocele Cerebellar vermis hypoplasia Postaxial hand polydactyly Dandy-Walker malformation Renal cyst Downturned corners of mouth Retinal dystrophy Abnormality of skin pigmentation Retinal dysplasia Hypoplasia of the corpus callosum Shortening of all distal phalanges of the fingers Aplasia/Hypoplasia of the distal phalanges of the hand Prominent interphalangeal joints Absent fifth toenail Absent fifth fingernail Sparse scalp hair Polydactyly Abnormality of eye movement Mandibular prognathia Aggressive behavior Abnormality of the eye Poor speech Coloboma Prominent nasal bridge Self-mutilation Impaired smooth pursuit Peripheral demyelination Fever Urinary incontinence Limb muscle weakness Muscular dystrophy Increased muscle glycogen content Proximal muscle weakness Conductive hearing impairment EEG abnormality Difficulty walking Muscle fiber hypertrophy Dyspnea Abnormality of metabolism/homeostasis Dilatation Headache Skeletal muscle atrophy Recurrent infections Optic nerve coloboma Elongated superior cerebellar peduncle Breathing dysregulation Agenesis of cerebellar vermis Abnormal pattern of respiration Abnormal saccadic eye movements Meningoencephalocele Abnormality of ocular smooth pursuit Episodic tachypnea Triangular-shaped open mouth Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Enlarged fossa interpeduncularis Hemifacial spasm Occipital myelomeningocele Renal dysplasia Bilateral single transverse palmar creases Poor suck Lower limb hypertonia Hyperhidrosis Ventriculomegaly Abnormality of the skeletal system Abnormal corpus callosum morphology Nystagmus Overjet Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Asplenia Proptosis Facial hypotonia Abnormality of blood and blood-forming tissues Slender finger External genital hypoplasia Encephalitis Scrotal hypoplasia Drooling Exotropia Decreased testicular size Tapered finger Paraplegia Nail dystrophy Spastic paraplegia Thin upper lip vermilion Hyperkeratosis Carcinoma Clinodactyly Atrial fibrillation Laryngomalacia Relative macrocephaly Hemangioma Acanthosis nigricans Short chin Narrow palate Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Decreased body weight Hypoplasia of dental enamel Epidermal acanthosis Abnormality of the nervous system Tachycardia Postnatal growth retardation Arthrogryposis multiplex congenita Hypermetropia Delayed puberty Astigmatism Joint hypermobility Hematuria Eczema Sepsis Nevus Premature birth Growth hormone deficiency Abnormality of the skin Hip dysplasia Upslanted palpebral fissure Vomiting Growth abnormality Pancreatic islet-cell hyperplasia Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Thymus hyperplasia Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Broad alveolar ridges Rod-cone dystrophy Polysplenia Hyperinsulinemia Nephroblastoma Global brain atrophy Hamartoma Enlarged kidney Capillary hemangioma Renal neoplasm Intestinal atresia Volvulus Hypoxemia Thickened helices Visceromegaly Interrupted aortic arch Femoral hernia Diarrhea Retinopathy Intellectual disability, severe Sleep apnea Optic atrophy Dermatan sulfate excretion in urine Retinoschisis Tracheobronchomalacia Cervical cord compression Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Retinal fold Intestinal pseudo-obstruction Myelopathy Dysostosis multiplex Papilledema Scaphocephaly Abnormal heart valve morphology Corneal dystrophy Abnormality of the cerebral white matter Tetraparesis Neurodegeneration Delayed eruption of teeth Asthma Pigmentary retinopathy Spastic tetraplegia Intellectual disability, profound Progressive neurologic deterioration Aortic regurgitation Split hand Abnormality of retinal pigmentation Hyporeflexia Elbow flexion contracture Exercise intolerance Spastic tetraparesis Atrophy/Degeneration involving the corticospinal tracts



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Respiratory insufficiency, related diseases and genetic alterations High palate and Thick lower lip vermilion, related diseases and genetic alterations Low-set ears and Skin rash, related diseases and genetic alterations

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