Fever, and Dolichocephaly

Diseases related with Fever and Dolichocephaly

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


Top matches:

High match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

High match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

High match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

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Other less relevant matches:

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Medium match OCCIPITAL HORN SYNDROME


Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Dolichocephaly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Fever and Dolichocephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Pain

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Downslanted palpebral fissures Strabismus Microcephaly Short stature Micrognathia Malar flattening Kyphosis Clinodactyly of the 5th finger Short palm Ptosis Cryptorchidism Abnormality of the skeletal system Cleft palate Facial asymmetry Depressed nasal bridge Abnormality of the pinna Hip dislocation Muscular hypotonia Failure to thrive Nystagmus Specific learning disability Cognitive impairment Kyphoscoliosis Hypertelorism Renal insufficiency Epicanthus Flexion contracture Delayed skeletal maturation Hypogonadism Respiratory distress Hypertonia Wide nasal bridge Brachydactyly Dilatation Osteoporosis Osteopenia Proptosis Congestive heart failure Hydronephrosis Polymicrogyria Renal cyst Leukemia Abnormality of the nervous system Large hands Obesity Diarrhea Vomiting Abnormality of the dentition Atrial septal defect Syndactyly Apnea Feeding difficulties Delayed speech and language development Talipes equinovarus Anteverted nares Intellectual disability, severe Long philtrum Hyporeflexia Short chin Pes planus Irritability Cataract Carious teeth Full cheeks Recurrent urinary tract infections Bulbous nose Hearing impairment Growth delay Intrauterine growth retardation Myopathy Clinodactyly Neoplasm Oligohydramnios Intellectual disability, mild Acute kidney injury Umbilical hernia Lymphedema Headache Ataxia Ventriculomegaly

Rare Symptoms - Less than 30% cases


Limited elbow extension Hypohidrosis Elbow flexion contracture Nasal speech Radial deviation of finger Diabetes mellitus Upslanted palpebral fissure Disproportionate tall stature Gastroesophageal reflux Temperature instability Hypopnea Round face Behavioral abnormality Ventricular septal defect Motor delay Keloids Arteriovenous malformation Abnormality of the wrist Exostoses Irregular hyperpigmentation Hyperactivity Sudden cardiac death Weight loss Hip dysplasia Impaired pain sensation Myeloid leukemia Glucose intolerance Hyperinsulinemia Poor suck Respiratory insufficiency Short neck Hypoplasia of the corpus callosum Insulin resistance Short nose Hypopigmentation of the skin Dental crowding Narrow mouth Sleep disturbance Dyspnea Retrognathia Genu valgum Hypermetropia Neonatal hypotonia Attention deficit hyperactivity disorder Autism Tapered finger Multiple cafe-au-lait spots Pulmonary embolism Long face Decreased muscle mass Hydroureter Heterotopia Short thumb High, narrow palate Recurrent infections Sacral dimple Abnormality of the metacarpal bones Abnormality of the urinary system Rickets Patent ductus arteriosus Diabetes insipidus Osteomalacia Chromosome breakage Short humerus Arachnoid cyst Spasticity Abnormality of finger Aplastic clavicle Large iliac wings Bruising susceptibility Abnormality of the pubic bone Abnormality of the genital system Myopia Macrocephaly Abnormal form of the vertebral bodies Sloping forehead Abnormal vertebral morphology Hypothyroidism Immunodeficiency Agenesis of corpus callosum Severe short stature Abnormality of skin pigmentation Finger syndactyly Glaucoma Respiratory failure Hyperkeratosis Micropenis Intellectual disability, moderate Carcinoma Tetralogy of Fallot Skeletal dysplasia Almond-shaped palpebral fissure Abnormality of the kidney Chronic diarrhea Postnatal growth retardation Small for gestational age Hepatitis Platyspondyly Constipation Thick vermilion border Abnormality of cardiovascular system morphology Hypothermia Macrotia Decreased fetal movement Thin upper lip vermilion Muscle weakness Clumsiness Large fontanelles Agenesis of cerebellar vermis Malignant hyperthermia Hypoplastic anemia Scaphocephaly Joint laxity Blue sclerae Hyperkalemia Blepharophimosis Toe syndactyly Stroke Pectus carinatum Small hand Short foot Short metacarpal Rigidity Underdeveloped nasal alae Renal hypoplasia Anemia Splenomegaly Thrombocytopenia Posteriorly rotated ears Abdominal pain Edema Optic atrophy Hepatomegaly Hypoglycemia Midface retrusion Abnormality of the liver Elevated serum creatine phosphokinase Hyperhidrosis Arrhythmia Triangular face Nevus Pectus excavatum Acidosis Coarctation of aorta Cerebral atrophy 2-3 toe syndactyly Ventricular arrhythmia Joint hypermobility Lactic acidosis Bicuspid aortic valve Metabolic acidosis Long nose Myotonia Short palpebral fissure Growth abnormality Tachycardia Cafe-au-lait spot Telangiectasia Renal agenesis Aganglionic megacolon Spina bifida Hypergonadotropic hypogonadism Bone marrow hypocellularity Pes cavus Choanal atresia Pancytopenia Vertigo Lymphoma Neutropenia Astigmatism Anal atresia Sepsis Abnormality of the foot Abnormal cardiac septum morphology Gastrointestinal hemorrhage Esotropia Abnormality of the eye Hypertrophic cardiomyopathy Growth hormone deficiency Abnormal heart morphology Febrile seizures Horseshoe kidney Limb muscle weakness Downturned corners of mouth Ectopic kidney B-cell lymphoma Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Aplasia/Hypoplasia of the radius Absent radius Respiratory tract infection Pruritus Abnormality of blood and blood-forming tissues Acute myeloid leukemia Abnormal bleeding Absent thumb Squamous cell carcinoma Leukopenia Hypoplasia of the ulna Delayed puberty Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Muscle cramps Infertility Renal hypoplasia/aplasia Arachnodactyly Cranial nerve paralysis Azoospermia Type I diabetes mellitus Hypospadias Amenorrhea Narrow nasal bridge Acrocyanosis Oligomenorrhea Aortic valve stenosis Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Striae distensae Increased body weight Hypogonadotrophic hypogonadism Spontaneous abortion Polyphagia Hypoplasia of the fovea External genital hypoplasia Narrow palpebral fissure Truncal obesity Sleep apnea Adrenal insufficiency Skeletal muscle hypertrophy Albinism Muscular dystrophy Inflammation of the large intestine Emotional lability Arthrogryposis multiplex congenita Precocious puberty Scrotal hypoplasia Infantile muscular hypotonia Bradycardia Hyperlordosis Abnormality of the cardiovascular system Psychosis Failure to thrive in infancy Narrow forehead Microphthalmia Hydrocephalus Frontal bossing Fatigue Hyperreflexia Visual impairment Acromicria Poor gross motor coordination Proximal muscle weakness Narrow palm Type II diabetes mellitus Psychotic episodes Hypoplastic labia minora Ocular albinism Central adrenal insufficiency Triangular mouth Disseminated intravascular coagulation Abnormality of the upper limb Frontal upsweep of hair Clitoral hypoplasia Cutaneous photosensitivity Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Primary amenorrhea Generalized hypopigmentation Myalgia Erysipelas Abnormal heart valve morphology Aplastic anemia Coxa vara Cerebral calcification Cholestasis Abnormality of the face Narrow face Coxa valga Wormian bones Osteolysis Joint hyperflexibility Cutis laxa Coarse hair Hyperextensible skin Redundant skin Bilateral ptosis Delayed cranial suture closure Convex nasal ridge Narrow chest Dislocated radial head Fulminant hepatic failure Periorbital fullness Episodic vomiting Toenail dysplasia Cerebellar cortical atrophy Hyperorality Tongue thrusting Hair-pulling Scarring Recurrent pyelonephritis Skeletal muscle atrophy Dysphagia Hernia Inguinal hernia High forehead Jaundice Orthostatic hypotension Short clavicles Concave nasal ridge Pelvic bone exostoses Synostosis of joints Long neck Broad clavicles Capitate-hamate fusion Aplasia/hypoplasia of the humerus Rudimentary to absent tibiae Bladder carcinoma Abnormality of the sense of smell Limited knee extension Persistent open anterior fontanelle Ureteral obstruction Abnormality of esophagus physiology Aortic rupture Carotid artery tortuosity Absent tibia Gastroparesis Soft skin Premature skin wrinkling Carpal synostosis Hiatus hernia Abnormality of the skull Atypical scarring of skin Down-sloping shoulders Esophagitis Generalized joint laxity Thick hair Broad ribs Prominent superficial veins Avascular necrosis of the capital femoral epiphysis Abnormality of fibula morphology Bladder diverticulum Venous insufficiency Femoral hernia Delayed CNS myelination Heat intolerance Abnormality of the uterus Compensated hypothyroidism Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Absent testis Abnormal carotid artery morphology Low-grade fever Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the iris Meckel diverticulum Abnormality of the preputium Abnormal aortic valve morphology Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Duplicated collecting system Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Webbed neck Primary hypothyroidism Duodenal stenosis Pyridoxine-responsive sideroblastic anemia Gait disturbance Bruxism Recurrent upper respiratory tract infections Multicystic kidney dysplasia Accelerated skeletal maturation Abnormality of the outer ear Increased intracranial pressure Poor head control Recurrent skin infections Prominent supraorbital ridges Cerebral visual impairment Polycystic kidney dysplasia Hypoplastic toenails Cellulitis Weak cry Poor eye contact Palpebral edema Abnormality of the periventricular white matter Pointed chin Tall stature Absent speech Nausea and vomiting EEG abnormality Deeply set eye Anxiety Aggressive behavior Protruding ear Autistic behavior Unsteady gait Nephrolithiasis Hepatic failure Thick eyebrow Vesicoureteral reflux Dental malocclusion Broad-based gait Renal dysplasia Long eyelashes Abnormality of nervous system morphology Retinal nonattachment Photophobia Premature birth Micromelia Dry skin Single transverse palmar crease Aciduria Bifid uvula Delayed myelination Prominent nose Leukocytosis Limb undergrowth Progressive cerebellar ataxia Hypsarrhythmia Status epilepticus Cerebellar vermis hypoplasia Fine hair Hypotrichosis Corneal opacity Retinal dystrophy Extramedullary hematopoiesis Morbilliform rash Polydactyly Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Normocytic anemia Cholestatic liver disease Microtia Organic aciduria Muscular hypotonia of the trunk Nuclear cataract Severe failure to thrive Petechiae Sparse hair Sparse scalp hair Abnormality of the metaphysis Fluctuating splenomegaly Broad palm Prominent occiput Femoral bowing Cortical gyral simplification Partial agenesis of the corpus callosum Prolonged neonatal jaundice Disproportionate short stature Cerebral cortical atrophy Multiple joint contractures Hip contracture Submucous cleft hard palate Epileptic spasms Severe intrauterine growth retardation Thickened nuchal skin fold Delayed epiphyseal ossification Arthralgia Hepatosplenomegaly Pachygyria Knee flexion contracture Lymphadenopathy Bowing of the long bones Malabsorption Sparse and thin eyebrow Bilateral single transverse palmar creases Muscle stiffness Absence seizures Elevated hepatic transaminase Sparse eyelashes Lissencephaly Skin rash Low-set, posteriorly rotated ears Preaxial polydactyly Elbow dislocation Fluctuating hepatomegaly Normocytic hypoplastic anemia Long foot Mandibular prognathia Hypokalemia Short metatarsal Oligodontia Ventricular tachycardia Scapular winging Cardiac arrest Polyhydramnios Loss of consciousness Short phalanx of finger Decreased body weight Facial palsy Camptodactyly Hypoplasia of dental enamel Feeding difficulties in infancy Preauricular pit High pitched voice Tetraparesis Short mandibular rami Periodic paralysis Persistence of primary teeth Delayed eruption of permanent teeth Toe clinodactyly Clinodactyly of the 5th toe Periodic hypokalemic paresis Periodic hyperkalemic paralysis Prolonged QT interval Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Prominent U wave Slender long bone Agenesis of permanent teeth Palpitations Falls Cerebellar hypoplasia Smooth tongue Large face Velopharyngeal insufficiency Broad forehead Unexplained fevers Bilateral camptodactyly Hypernatremic dehydration Facial tics Trismus Cold-induced sweating Paralysis Sensorineural hearing impairment Gait ataxia Depressivity Alopecia Central apnea Narrow nose Wide nose Interphalangeal joint contracture of finger Highly arched eyebrow Limitation of joint mobility Syncope Cyanosis Dehydration Generalized-onset seizure Hypoplasia of the maxilla Episodic fever Delayed eruption of teeth Adducted thumb Inability to walk Keratitis Overlapping toe Pulmonic stenosis Opisthotonus Flat acetabular roof Short femur Hypotension Long penis Hemihypertrophy Anisocytosis Arterial thrombosis Buphthalmos Myofibrillar myopathy Thin bony cortex Visceral angiomatosis Lower limb asymmetry Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Asymmetry of the thorax Vascular skin abnormality Thrombophlebitis Abnormality of the neck Myopathic facies Neoplasm of the central nervous system Lipoma Ovarian neoplasm Generalized hyperpigmentation Spinal canal stenosis Rhabdomyolysis Abnormal lung lobation Neoplasm of the lung Abnormality of the sternum Varicose veins Papilledema Capillary hemangioma Spinal cord compression Macroorchidism Meningioma Deep venous thrombosis Generalized hyperkeratosis Venous malformation Myoglobinuria Ventricular fibrillation Neoplasm of the thymus Central heterochromia Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Hypertension Hyperthyroidism Deep philtrum Recurrent respiratory infections Prominent forehead Tachypnea Shock Lumbar hyperlordosis Abnormal subcutaneous fat tissue distribution Bronchogenic cyst Epibulbar dermoid Metatarsus valgus Nephrogenic diabetes insipidus Abnormality of the coagulation cascade Upper limb asymmetry Testicular neoplasm Lymphangioma Epidermal nevus Calvarial hyperostosis Retinal hamartoma Portal vein thrombosis Macrodactyly Sirenomelia Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Thymus hyperplasia Hamartoma Multiple lipomas Hypoplastic ilia Absent knee epiphyses Cerebellar atrophy Shoulder flexion contracture Abnormality of the tragus Bifid femur Bowed humerus Enlarged metaphyses Cleft vertebral arch Loss of eyelashes Bifid first metacarpal Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Visual loss Congenital ptosis Abnormality of the distal phalanx of finger Abnormality of calcium-phosphate metabolism Respiratory arrest Broad distal phalanx of finger Abnormal cortical gyration 11 pairs of ribs Profound global developmental delay Colpocephaly Thin eyebrow Abnormality of the upper urinary tract Tethered cord Aplasia/hypoplasia of the femur Long clavicles Central hypothyroidism Abnormally ossified vertebrae Abnormality of the intervertebral disk Hypoplasia of the frontal lobes Small anterior fontanelle Diaphragmatic eventration Severe lactic acidosis Neurofibromas Reduced number of teeth Generalized hirsutism Abnormality of dental enamel Venous thrombosis Hemangioma Goiter Palmoplantar hyperkeratosis Cachexia Lymphopenia Lipodystrophy Chorioretinal coloboma Melanocytic nevus Hyperostosis Hallux valgus Pericardial effusion Abnormality of the nail Thoracic kyphosis Joint stiffness Gliosis Craniosynostosis Breech presentation Confusion Hyperphosphatemia Low hanging columella Abdominal distention Decreased antibody level in blood Sinusitis Overgrowth High myopia Epidermal acanthosis Open mouth Subcutaneous nodule Thickened skin Abnormality of retinal pigmentation Humerus varus



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