Abnormal facial shape, and Anorexia

Diseases related with Abnormal facial shape and Anorexia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Anorexia that can help you solving undiagnosed cases.


Top matches:

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

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Other less relevant matches:

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match CHOLANGIOCARCINOMA


Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.

CHOLANGIOCARCINOMA Is also known as bile duct cancer|cca

Related symptoms:

  • Fever
  • Fatigue
  • Abdominal pain
  • Jaundice
  • Pruritus


SOURCES: ORPHANET MENDELIAN

More info about CHOLANGIOCARCINOMA

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Anorexia

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

Patients with Abnormal facial shape and Anorexia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Congestive heart failure Failure to thrive Pain Depressivity Behavioral abnormality Anemia Hearing impairment Generalized hypotonia Microcephaly Scoliosis Nausea Jaundice Dyspnea Feeding difficulties Cognitive impairment Hypertension Fever Abdominal pain Hepatomegaly Weight loss Pulmonary arterial hypertension Respiratory insufficiency Headache Strabismus Abnormality of the dentition Glycosuria Joint hyperflexibility Prominent nasal bridge Left ventricular hypertrophy Hepatosplenomegaly High forehead Autism Hyperactivity Hypertrophic cardiomyopathy Chronic fatigue Dilatation Feeding difficulties in infancy Macrocephaly Frontal bossing Kyphosis Muscle weakness Optic atrophy Long face Gastroesophageal reflux Psychosis Hemiplegia Gait ataxia Proteinuria Lethargy Respiratory tract infection Nephropathy Gait disturbance Hepatic steatosis Renal insufficiency Urinary incontinence Motor delay Splenomegaly Easy fatigability Respiratory distress Cardiomyopathy Edema Diarrhea Encephalopathy Arrhythmia Delayed puberty Elevated hepatic transaminase Myalgia Difficulty walking Abnormality of skin pigmentation Flexion contracture Low-set ears Muscular hypotonia Growth delay Cough Nystagmus Cleft palate Visual impairment

Rare Symptoms - Less than 30% cases


Arthritis Retinopathy Glomerulopathy Tubulointerstitial nephritis Dementia Elevated serum creatinine Acidosis Congenital cataract Thrombocytopenia Tubular atrophy Progressive sensorineural hearing impairment Irritability Malabsorption Emphysema Paresthesia Retinal degeneration Oligospermia Hematuria Diabetes insipidus Impaired vibratory sensation Metabolic acidosis Polydipsia Abnormality of the hand Polyuria Abnormality of femur morphology Chronic obstructive pulmonary disease Vertigo Proximal muscle weakness Abnormality of the nervous system ST segment depression Impaired temperature sensation Decreased glomerular filtration rate Tubulointerstitial fibrosis Abnormal renal physiology Hyperlordosis Carious teeth High-frequency hearing impairment Waddling gait Tremor Bone pain Leukopenia Tinnitus Restrictive cardiomyopathy Myocardial fibrosis Hyperostosis Elevated erythrocyte sedimentation rate Abdominal distention Urinary retention Limb pain Hyperlipidemia Recurrent urinary tract infections Aciduria Syncope Portal hypertension Cholelithiasis Pulmonary hypoplasia Purpura Muscle cramps Thickened skin Cardiomegaly Cyanosis Decreased liver function Cardiac arrest Exercise intolerance Hyperammonemia Nausea and vomiting Ascites Hepatic failure Cirrhosis Lymphadenopathy Ophthalmoplegia Abnormality of the renal tubule Acute pancreatitis Corneal opacity Dystonia Recurrent respiratory infections Pallor Clubbing Abnormality of the cerebral white matter Pigmentary retinopathy Hypothyroidism Pancytopenia Developmental regression Abnormality of retinal pigmentation Atherosclerosis Slurred speech Tachycardia Spasticity Stage 5 chronic kidney disease Pruritus Dysphagia Abnormality of the kidney Hyperkeratosis Dilated cardiomyopathy Hyperhidrosis Constipation Peripheral neuropathy Respiratory failure Sensorineural hearing impairment Arthralgia Short stature Hypoglycemia Interstitial pulmonary abnormality Heart murmur Abnormality of the liver Pancreatitis Myoclonus Pes planus Posteriorly rotated ears Pectus excavatum Narrow face Nasal speech Disproportionate tall stature Hydrocephalus Aortic root aneurysm Blindness Pulmonic stenosis Anxiety Macrotia Patent ductus arteriosus Neurological speech impairment Clinodactyly Increased intracranial pressure Intrauterine growth retardation Visual loss High palate Micrognathia Skin rash Delayed speech and language development Carcinoma Proptosis Dental crowding Obsessive-compulsive behavior Glaucoma Thin upper lip vermilion Attention deficit hyperactivity disorder Short philtrum Joint laxity Aggressive behavior Aspiration Hypogonadism Mandibular prognathia Miosis Microalbuminuria Abnormality of temperature regulation Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Gastrointestinal dysmotility Pneumonia Rod-cone dystrophy Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Polydactyly Diabetes mellitus T-wave inversion Kyphoscoliosis Conjunctival telangiectasia Nephrogenic diabetes insipidus Photophobia Dysesthesia Abnormal cornea morphology Abnormal thrombosis Malar flattening Chronic pain Abnormal aortic valve morphology Deeply set eye Conductive hearing impairment Supraventricular arrhythmia Increased carotid artery intimal medial thickness Alopecia Increased glomerular filtration rate Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormal glomerular filtration rate Abnormality of glycosphingolipid metabolism Abnormality of the forehead Abnormality of the common coagulation pathway Hyperkeratotic papule Unexplained fevers Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Neoplasm Mucosal telangiectasiae Vascular tortuosity Short neck Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Obesity Angiokeratoma Obstructive lung disease Hyposthenuria Concentric hypertrophic cardiomyopathy Cornea verticillata Shortened QT interval Angiokeratoma corporis diffusum Periorbital fullness Decreased lacrimation Shortened PR interval Coronary artery stenosis Hyporeflexia Achalasia Abnormal mitral valve morphology Anemia of inadequate production Subcutaneous nodule Hypohidrosis Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Ventricular tachycardia Mitral regurgitation Aortic regurgitation Abnormal intestine morphology Progressive hearing impairment Corneal dystrophy Ischemic stroke Reduced bone mineral density Ventricular arrhythmia Atrioventricular block Abnormal lung morphology Palpitations Prominent supraorbital ridges Thick vermilion border Retinoblastoma Stroke Papule Inflammatory abnormality of the eye Buphthalmos Astrocytoma Bulbous nose Thick eyebrow Acute monocytic leukemia Myocardial infarction Chest pain Sudden cardiac death Hypotension Abnormality of the cardiovascular system Mitral valve prolapse Nephrotic syndrome Ventricular hypertrophy Thick lower lip vermilion Atrial fibrillation Chronic kidney disease Osteosarcoma Asymmetric septal hypertrophy Supraventricular tachycardia Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Lymphoma Postural instability Abnormality of the gastrointestinal tract Leukemia Large earlobe Heat intolerance Abnormal EKG Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Angina pectoris Autistic behavior Sinus bradycardia Abnormality of the nose Abnormal myocardium morphology Xerostomia Abnormality of lipid metabolism Glomerulosclerosis Loss of consciousness Chromosome breakage Personality changes Uveitis Tricuspid regurgitation Acute myeloid leukemia Cellulitis Anhidrosis Neurofibromas Bundle branch block Wheezing Impotence Coronary artery atherosclerosis Myelodysplasia Orthostatic hypotension Celiac disease Telangiectasia of the skin Sarcoma Abnormal heart valve morphology Renal tubular acidosis Postnatal growth retardation Hirsutism Sparse hair Bull's eye maculopathy Pyelonephritis Chills Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Vertical nystagmus Arteriosclerosis Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Abnormality of the optic disc Abnormal spermatogenesis Chronic infection Poor fine motor coordination Elevated C-reactive protein level Lumbar scoliosis Male hypogonadism Ketoacidosis Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Right ventricular hypertrophy Acute hepatic failure Recurrent bronchitis Myocarditis Esophageal varix Testicular atrophy Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Retinal pigment epithelial atrophy Disinhibition Abnormal left ventricle morphology Abnormality of the urethra Abnormality of dental color Posterior subcapsular cataract Widely-spaced incisors Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Abnormal retinal artery morphology Chronic active hepatitis Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Acholic stools Hyperostosis frontalis interna Abnormal adipose tissue morphology Epigastric pain Abnormality of the pituitary gland Abnormal chorioretinal morphology Urethral stricture Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones Urethral obstruction Hypoplastic male external genitalia Nonproductive cough Hepatic necrosis Chronic hepatic failure Facial hirsutism Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Broad foot Oligomenorrhea Scarring Sinusitis Hypertriglyceridemia Recurrent otitis media Involuntary movements Chronic diarrhea Insulin resistance Hepatic fibrosis Hyperpigmentation of the skin Gynecomastia Type II diabetes mellitus Short toe Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Increased body weight Generalized hirsutism Hypogonadotrophic hypogonadism Nephrocalcinosis Epidermal acanthosis Optic disc pallor Accelerated skeletal maturation Sleep disturbance Nyctalopia Generalized tonic-clonic seizures Hypotrichosis Hypermetropia Infertility Dry skin Vitreous hemorrhage Retinal dystrophy Asthma Hepatitis Vesicoureteral reflux Round face Gastrointestinal hemorrhage Growth hormone deficiency Otitis media Decreased testicular size Progressive visual loss Specific learning disability Absence seizures Macular degeneration Poor coordination Pericarditis Chorioretinal atrophy Polyphagia Short finger Agenesis of permanent teeth Bronchitis Hyperuricemia Increased number of teeth Subcapsular cataract Thoracic scoliosis Abnormal retinal morphology Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Insulin-resistant diabetes mellitus Retinal atrophy Peripheral visual field loss Alopecia of scalp Hyperventilation Pericardial effusion Truncal obesity Acanthosis nigricans Lipodystrophy Hypercholesterolemia Tachypnea Cone/cone-rod dystrophy Goiter Polycystic ovaries Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Nephritis Urinary urgency Chronic otitis media Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Acne Hyperglycemia Glucose intolerance Pulmonary fibrosis Hydroureter Coarse facial features Erlenmeyer flask deformity of the femurs Ocular pain Hyperhomocystinemia Atrophy of the spinal cord Methylmalonic acidemia Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Decreased methylcobalamin Decreased adenosylcobalamin Right ventricular failure Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thyroglossal cyst Hemolytic-uremic syndrome Gastritis Depressed nasal bridge Ascending tubular aorta aneurysm Memory impairment Cat cry Abnormality of extrapyramidal motor function Oppositional defiant disorder Broad-based gait Low frustration tolerance Velopharyngeal insufficiency Impaired social interactions Myelopathy Abnormality of the rib cage Ectopia lentis Apathy Thromboembolism Megaloblastic anemia Cor pulmonale Methylmalonic aciduria Homocystinuria Macroorchidism Dysarthria Neutropenia Abnormality of the genital system Coma Renal cyst Tetraplegia Generalized muscle weakness Gliosis Increased serum lactate Tetraparesis Pachygyria Lactic acidosis Heterotopia Renal dysplasia Wide anterior fontanel Camptodactyly of finger Leukodystrophy Clonus Protruding ear Type I diabetes mellitus Arachnodactyly Hypoplasia of the maxilla Slender finger Deep philtrum Narrow nasal bridge Long nose Emotional lability Myopathy Aortic aneurysm Abnormality of the voice Areflexia Elevated serum creatine phosphokinase Schizophrenia Limb muscle weakness Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Short chin Telecanthus Abnormality of the pinna Hallucinations Broad thumb Open mouth Abnormally folded helix Epicanthus Spastic tetraparesis Metaphyseal dysplasia Aortic valve stenosis Stereotypy Abnormality of pelvic girdle bone morphology Cachexia Prominent nose Reduced subcutaneous adipose tissue Single transverse palmar crease Abnormality of the vertebral column Vasculitis Aplasia/Hypoplasia of the radius Poor appetite Abnormality of the skull Gangrene Raynaud phenomenon Abnormality of the ulna Facial paralysis Slender build Coxa valga Bone marrow hypocellularity Tapered finger Shallow orbits Skeletal muscle atrophy Facial palsy Six lumbar vertebrae Subvalvular aortic stenosis Paralysis Muscular dystrophy Broad face Genu valgum Increased bone mineral density Bipolar affective disorder Sensory neuropathy Delayed eruption of teeth Limitation of joint mobility Sandal gap Lumbar hyperlordosis Diplopia Horseshoe kidney Abnormality of tibia morphology Extramedullary hematopoiesis Downslanted palpebral fissures Lower limb muscle weakness Cleft lip Cerebral cortical atrophy Reduced visual acuity Mental deterioration Clinodactyly of the 5th finger Hip dislocation Inguinal hernia Smooth philtrum Pectus carinatum Confusion Unsteady gait Hypospadias Hernia Joint hypermobility Hemolytic anemia Microphthalmia Short nose Intellectual disability, moderate Small for gestational age Otosclerosis Cranial nerve compression Abnormality of the humerus Everted lower lip vermilion Abnormal diaphysis morphology Lower limb pain Sclerosis of skull base Cranial hyperostosis Oral cleft Abnormality of the radius Diaphyseal sclerosis Intellectual disability, severe Diaphyseal dysplasia Optic nerve compression Craniofacial osteosclerosis Cortical sclerosis Cortical thickening of long bone diaphyses Abnormal subcutaneous fat tissue distribution Elevated aldolase level Facial asymmetry Scapular winging Ragged-red muscle fibers Anisocoria Glioblastoma multiforme Akinesia Fibrosarcoma Athetosis Menorrhagia Opisthotonus Abnormality of coagulation Petechiae Hypokinesia Hyponatremia Exertional dyspnea Bulbar palsy Congenital ichthyosiform erythroderma Poor eye contact Atrophy/Degeneration affecting the brainstem Protuberant abdomen Limb hypertonia Epileptic spasms Burkitt lymphoma Ectropion Increased serum ferritin Knee flexion contracture Cholestasis Decreased body weight Sebaceous gland carcinoma Hydrops fetalis Progressive microcephaly Elbow flexion contracture Hypocalcemia Hyperbilirubinemia Abnormality of the thorax Osteolysis Liposarcoma Oculomotor apraxia Poor suck Histiocytoma Intracranial hemorrhage Bilateral ptosis Vitritis Hepatocellular carcinoma Aspiration pneumonia Epistaxis Hematological neoplasm Intestinal bleeding Giant cell hepatitis Laryngeal stridor Orthopnea CSF pleocytosis Skeletal dysplasia Decreased beta-glucocerebrosidase protein and activity Abnormal platelet aggregation Subcutaneous hemorrhage Cardiac valve calcification Slowed horizontal saccades EEG with temporal sharp waves Malar rash Leukocoria Soft tissue sarcoma Midface retrusion Leiomyosarcoma Spontaneous hematomas Abducens palsy Fetal akinesia sequence Abnormality of the larynx Hypomagnesemia Bulbar signs Trismus Slow saccadic eye movements Nonimmune hydrops fetalis Supranuclear gaze palsy Congenital nonbullous ichthyosiform erythroderma Multiple myeloma Hypoxemia Axial dystonia Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Restrictive deficit on pulmonary function testing Generalized osteosclerosis Histiocytosis Abnormal pattern of respiration Eclabion Hemophagocytosis Progressive neurologic deterioration Decreased fetal movement Mutism Generalized aminoaciduria Medulloblastoma Proximal tubulopathy Episodic vomiting Agenesis of corpus callosum Abnormal corpus callosum morphology Loss of ability to walk Respiratory arrest Oliguria Hypoketotic hypoglycemia Glutaric aciduria Progressive spastic quadriplegia Personality disorder Hypoglycemic coma Nonketotic hypoglycemia Impaired mastication Limb tremor Renal cortical cysts Exercise-induced myalgia Organic aciduria Narcolepsy Rhabdomyolysis Poor head control Polycystic kidney dysplasia Back pain Stridor Ventricular fibrillation Restrictive ventilatory defect Difficulty climbing stairs Brachycephaly Acute kidney injury Prominent forehead Fatigable weakness Drowsiness Myoglobinuria Ketosis Progressive proximal muscle weakness Cardiorespiratory arrest Ketonuria Excessive daytime somnolence Cataplexy Gastrointestinal inflammation Neoplasm of the eye Abnormality of eye movement Umbilical hernia Rigidity Apnea Brachydactyly Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Polyhydramnios Iris neovascularization Pineal cyst Ewing sarcoma Generalized myoclonic seizures Abnormal bleeding Hyphema Brain atrophy Abnormality of the skin Osteopenia Ventricular septal defect Arthralgia of the hip Fatigable weakness of distal limb muscles Glutaric acidemia Increased muscle lipid content Ketotic hypoglycemia Elevated plasma acylcarnitine levels Reduced protein C activity Reye syndrome-like episodes Ethylmalonic aciduria Hypersarcosinemia Fatigable weakness of neck muscles Atrial septal defect Abnormality of branched chain family amino acid metabolism Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Abnormality of blood glucose concentration Hypertonia Intellectual disability, mild Delayed skeletal maturation Biliary tract neoplasm



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