Macrocephaly, and Ventricular hypertrophy

Diseases related with Macrocephaly and Ventricular hypertrophy

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

Top matches:

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Other less relevant matches:

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

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

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Ventricular hypertrophy

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Ventricular hypertrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Left ventricular hypertrophy

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Patent ductus arteriosus Micrognathia Vomiting Cardiomegaly Hypertension Hearing impairment Failure to thrive Delayed speech and language development Hypertelorism Edema High palate Seizures Congestive heart failure Muscular hypotonia Cryptorchidism Ptosis Relative macrocephaly Growth delay Feeding difficulties Pulmonic stenosis Umbilical hernia Stroke Short neck Osteopenia Ataxia Prominent forehead High, narrow palate Short stature Cataract Coxa valga Dental crowding Nasal speech Delayed puberty Flexion contracture Thick vermilion border Fatigue Thickened calvaria Heart murmur Atrial septal defect Respiratory failure Respiratory distress Thin skin Headache Depressed nasal bridge Hernia Abnormality of the skeletal system Anteverted nares Long philtrum Pectus carinatum Osteoporosis Pallor Wide mouth Macrotia Epicanthus Ventricular septal defect Cyanosis Dyspnea Respiratory insufficiency Downslanted palpebral fissures Low posterior hairline Hepatic steatosis Kyphosis Sensorineural hearing impairment Hepatomegaly Abnormality of the cardiovascular system Carious teeth Hypoglycemia Kyphoscoliosis Skeletal muscle atrophy Retinopathy

Rare Symptoms - Less than 30% cases

Inguinal hernia Pectus excavatum Renal insufficiency Sparse hair Brachydactyly Visual impairment Craniosynostosis Hypogonadism Abnormality of the liver Amenorrhea Glaucoma Myocardial infarction Abnormality of the genital system Proptosis Joint stiffness Delayed eruption of teeth Limitation of joint mobility Asthma Hypodontia Abnormality of the dentition Blindness Decreased body weight Acute pancreatitis Hirsutism Stage 5 chronic kidney disease Retinal degeneration Hydrocephalus Conductive hearing impairment Short nose Pigmentary retinopathy Hyperinsulinemia Multiple joint contractures Behavioral abnormality Pain Spasticity Metabolic acidosis Dysphagia Myopathy Diarrhea Lethargy Myalgia Depressivity Coma Encephalopathy Arrhythmia Areflexia Lactic acidosis Acidosis High forehead Limb muscle weakness Elevated hepatic transaminase Proximal muscle weakness Muscle weakness Gliosis Convex nasal ridge Stridor Progressive visual loss Congenital diaphragmatic hernia Aortic valve stenosis Cardiorespiratory arrest Hypogonadotrophic hypogonadism Aortic regurgitation Easy fatigability Short clavicles Restrictive ventilatory defect Hemiplegia Increased serum lactate Hiatus hernia Ragged-red muscle fibers Hyperammonemia Pancreatitis Exercise intolerance Angina pectoris Cardiac arrest Leukodystrophy Wide anterior fontanel Back pain Dilated cardiomyopathy Nystagmus Long eyelashes Myopia Tremor Frontal bossing Severe global developmental delay Malar flattening Prominent supraorbital ridges Abnormality of eye movement Bicuspid aortic valve Narrow mouth Gastroesophageal reflux Fragile nails Generalized hirsutism Increased intracranial pressure Gingival overgrowth Hypertrichosis Abnormal pyramidal sign Long face Aspiration Patent foramen ovale Widely spaced teeth Clonus Wide nasal bridge Abnormal cerebellum morphology Delayed skeletal maturation Thick lower lip vermilion Skeletal dysplasia Muscular hypotonia of the trunk Coarse facial features Joint laxity Narrow chest Thick eyebrow Motor delay Abnormality of the elbow Metaphyseal widening Coarctation of aorta Hyperpigmentation of the skin Cognitive impairment Webbed neck Large sella turcica Abnormal cardiac septum morphology Thin vermilion border Bilateral coxa valga Mitral regurgitation Ovoid vertebral bodies Low-set ears Hyperextensible skin Growth hormone deficiency Hypotrichosis Mental deterioration Thin ribs Apnea Abnormal heart valve morphology Pneumonia Pericardial effusion Flared metaphysis Dolichocephaly Prominent superficial veins Generalized myoclonic seizures Brain atrophy Transient ischemic attack Osteolytic defects of the phalanges of the hand Decreased testosterone in males Premature birth Migraine Hyperphosphatemia Down-sloping shoulders Febrile seizures Absent eyelashes Optic disc pallor Abnormal EKG Thrombocytosis Alopecia of scalp Agenesis of corpus callosum Aplasia/Hypoplasia of the earlobes Lack of skin elasticity Prolonged prothrombin time Developmental regression Feeding difficulties in infancy Aplastic clavicle Abnormality of movement Abnormality of the eye Hip pain Talipes Narrow nasal ridge Arteriosclerosis Carcinoid tumor Dyskinesia Premature coronary artery atherosclerosis Progressive cerebellar ataxia Absence of subcutaneous fat Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Irritability Small face Myoclonus Thin nail Generalized osteoporosis Hepatic failure High pitched voice Renal cell carcinoma Chest pain Wolff-Parkinson-White syndrome Microtia Hip dislocation Hypermetropia Infertility Increased CSF lactate Nemaline bodies Corpus callosum atrophy Nail dysplasia Hypertriglyceridemia Osteoarthritis Broad-based gait Aspiration pneumonia Hypohidrosis Carcinoma Dementia Sparse and thin eyebrow Acute necrotizing encephalopathy Infantile encephalopathy Cardiogenic shock Biventricular hypertrophy Necrotizing encephalopathy Congenital lactic acidosis Abnormal mitochondria in muscle tissue Exercise-induced lactic acidemia Severe lactic acidosis Axial dystonia Decreased activity of mitochondrial respiratory chain Neoplasm Stiff neck Cerebral edema Midface retrusion Alopecia Insulin resistance Increased bone mineral density Hypoplastic nipples Incoordination Global brain atrophy Adrenal insufficiency Macrovesicular hepatic steatosis Premature graying of hair Prolonged QT interval Oral-pharyngeal dysphagia Exertional dyspnea Poor eye contact Leukoencephalopathy Lipoatrophy Shock Scleroderma Keratoconjunctivitis sicca Horizontal nystagmus Progressive spasticity Abnormality of the thorax Hypergonadotropic hypogonadism Progressive encephalopathy Aminoaciduria Osteolysis Atherosclerosis Hyperlipidemia Acanthosis nigricans Mitochondrial myopathy Optic neuropathy Premature ovarian insufficiency Hypercholesterolemia Renal tubular acidosis Basal ganglia calcification Weak cry Dermal atrophy Intracranial hemorrhage Lipodystrophy Progressive macrocephaly Abnormal form of the vertebral bodies Sinus tachycardia Difficulty standing Abnormal diaphysis morphology Recurrent ear infections Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Large face Sclerosis of skull base Abnormal nerve conduction velocity Delayed ossification of carpal bones Anterior open bite Meckel diverticulum Narrow pelvis bone Flared nostrils Anterior rib cupping Prominent sternum J-shaped sella turcica Abnormality of the gingiva Diaphyseal thickening Broad femoral neck Hip subluxation Foam cells Beaking of vertebral bodies Large earlobe Communicating hydrocephalus Upper airway obstruction Hypoplastic ilia Conical tooth Cor pulmonale Flared iliac wings Pulmonary edema Rhinorrhea Abnormal mitral valve morphology Seborrheic dermatitis Endocardial fibroelastosis Constrictive median neuropathy Abnormal aortic valve morphology Hypoplasia of teeth Sagittal craniosynostosis Myelopathy Abnormality of peripheral nerve conduction Atlantoaxial dislocation Heparan sulfate excretion in urine Abnormality of the respiratory system Bullet-shaped phalanges of the hand Flaring of rib cage Broad ischia Abnormality of joint mobility Delayed tarsal ossification Thick skull base Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Broad long bone diaphyses Mandibular condyle hypoplasia Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology Abnormal mandibular ramus morphology Abnormality of lysosomal metabolism Cervical subluxation Abnormal hand morphology Cervical kyphosis Enlargement of the wrists Abnormality of the middle ear ossicles Cervical myelopathy Calvarial hyperostosis Thoracolumbar kyphoscoliosis Hernia of the abdominal wall Urinary glycosaminoglycan excretion Short mandibular rami Abnormal CNS myelination Hypoplastic cervical vertebrae Lumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormality of the pubic bone Hypoplasia of the femoral head Calcification of falx cerebri Abnormality of the tonsils C1-C2 subluxation Enlarged tonsils Tracheal stenosis Dysostosis multiplex Corneal arcus Abnormality of skin pigmentation Abdominal pain Hepatosplenomegaly Camptodactyly of finger Nyctalopia Corneal opacity Synophrys Genu valgum Dry skin Wide nose Recurrent respiratory infections Inability to walk Everted lower lip vermilion Neurodegeneration Sleep disturbance Macroglossia Broad nasal tip Full cheeks Abnormality of the skin Pes cavus Constipation Microdontia Old-aged sensorineural hearing impairment Intermittent claudication Widely patent fontanelles and sutures Parietal bossing Mitral valve calcification Bird-like facies Prominent scalp veins Hypoplastic facial bones Reticulated skin pigmentation Craniofacial disproportion Visual loss Narrow nasal tip Carotid artery stenosis Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Splenomegaly Hip dysplasia Abnormality of the ribs Diastasis recti Hypoplasia of the odontoid process Toe walking Metatarsus adductus Coronary artery atherosclerosis Arthropathy Spinal canal stenosis Rhinitis Thoracic scoliosis Protruding tongue Palpebral edema Recurrent upper respiratory tract infections Protuberant abdomen Peripheral visual field loss Shallow orbits Recurrent lower respiratory tract infections Obstructive sleep apnea Abnormality of the skull Abnormality of the clavicle Gingivitis Language impairment Sleep apnea Lumbar hyperlordosis Thickened skin Intellectual disability, profound Interphalangeal joint contracture of finger Progressive neurologic deterioration Recurrent otitis media Split hand Hyporeflexia Encephalocele Chronic diarrhea Abnormality of epiphysis morphology Corneal dystrophy Exotropia Abnormal vertebral morphology Elbow flexion contracture Spastic paraparesis Abnormality of dental enamel Opacification of the corneal stroma Coxa vara Cerebral palsy Progressive hearing impairment Babinski sign Renal cortical cysts Dystonia Microphallus Undetectable electroretinogram Gait imbalance Abnormality of the ovary Vaginal atresia Menstrual irregularities Tapetoretinal degeneration Biliary tract abnormality Poor coordination Nephrogenic diabetes insipidus Hydrometrocolpos Septate vagina Dilatation Blepharophimosis Scarring Arachnodactyly Broad foot Foot polydactyly Bruising susceptibility Situs inversus totalis Short foot Decreased testicular size Specific learning disability Postaxial hand polydactyly Primary amenorrhea Aganglionic megacolon Hepatic fibrosis Anosmia Nephronophthisis Clubbing Radial deviation of finger Tricuspid regurgitation Hypoplasia of the uterus Macular dystrophy External genital hypoplasia Truncal obesity Vertigo Hypotension Postaxial polydactyly Decreased fertility in females Adrenocorticotropic hormone deficiency Bladder diverticulum Abnormal thrombosis Rectal prolapse Oculomotor nerve palsy Galactorrhea Secondary growth hormone deficiency Arterial tortuosity Male hypogonadism Decreased female libido Decreased circulating ACTH level Sudden loss of visual acuity Female hypogonadism Dyspareunia Adrenocorticotropin deficient adrenal insufficiency Bitemporal hemianopia Pituitary hypothyroidism Soft skin Telangiectasia Hyperglycemia Diplopia Gynecomastia Increased body weight Recurrent pneumonia Short chin Cutis laxa Ischemic stroke Epiphora Pulmonary artery stenosis Impotence Blurred vision Atrophic scars Keratoconus Aortic root aneurysm Tracheomalacia Growth hormone excess Retinal dystrophy Iris coloboma Cranial nerve VI palsy Mild global developmental delay Poor speech Prominent nose Intention tremor Open mouth Poor suck Hallux valgus Ankylosis Right ventricular hypertrophy Aggressive behavior Slender build Left ventricular noncompaction Speech apraxia Perseveration Increased head circumference Deviated nasal septum Intellectual disability, mild Short philtrum Neonatal hypotonia Anxiety Curly hair Abnormal heart morphology Hyperkeratosis Polyhydramnios Leukemia Systemic lupus erythematosus Pleural effusion Abnormality of the sternum Acute lymphoblastic leukemia Pes planus Graves disease Chylothorax Palmoplantar cutis laxa Hypoplasia of the corpus callosum Cerebellar hypoplasia Upslanted palpebral fissure Autism Recurrent infections Finger syndactyly Astigmatism Rod-cone dystrophy Cuboid-shaped vertebral bodies Broad first metatarsal Hypoplastic ischiopubic rami Congenital hypertrophy of left ventricle Widened posterior fossa Syndactyly Obesity Diabetes mellitus Erlenmeyer flask deformity of the femurs Polydactyly Micropenis Reduced visual acuity Abnormality of the kidney Coloboma Neurological speech impairment Paraplegia Congenital, generalized hypertrichosis Concentric hypertrophic cardiomyopathy Platyspondyly Large for gestational age Short distal phalanx of finger Abnormality of the metaphysis Lymphedema Low anterior hairline Accelerated skeletal maturation Pyloric stenosis Elevated alkaline phosphatase Broad hallux Curly eyelashes Short hallux Thick upper lip vermilion Broad ribs Broad hallux phalanx Esodeviation Generalized hypertrichosis Deep plantar creases Decreased fertility in males Fourth cranial nerve palsy Cerebellar atrophy Wide intermamillary distance Retrognathia Low-set, posteriorly rotated ears Postnatal growth retardation Attention deficit hyperactivity disorder Ichthyosis Joint hypermobility Dandy-Walker malformation Hyperactivity Eczema Sparse scalp hair Cafe-au-lait spot Hoarse voice Hypocalcemia Abnormality of the fingernails Abnormal palate morphology Hypothyroidism Posteriorly rotated ears Arnold-Chiari malformation Hypersarcosinemia Glutaric acidemia Increased muscle lipid content Ketotic hypoglycemia Elevated plasma acylcarnitine levels Reduced protein C activity Reye syndrome-like episodes Ethylmalonic aciduria Fatigable weakness of distal limb muscles Abnormality of cardiovascular system morphology Fatigable weakness of neck muscles 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 Ventriculomegaly Infantile muscular hypotonia Optic nerve hypoplasia Gastrointestinal inflammation Loose anagen hair Peripheral pulmonary artery stenosis Thickened helices Abnormality of the pulmonary artery Dermal translucency Abnormality of the intervertebral disk Superior pectus carinatum Abnormal location of ears Broad fingertip Abnormality of refraction Abnormality of the nasal bridge Anemia Peripheral neuropathy Hyperreflexia Intrauterine growth retardation Optic atrophy Talipes equinovarus Slow-growing hair Redundant neck skin Coarse hair Neurodevelopmental delay Deep philtrum Failure to thrive in infancy Overfolded helix Hypoplastic toenails Right bundle branch block Aplasia/Hypoplasia of the eyebrow Abnormality of coagulation Freckling Abnormality of the testis Natal tooth Atopic dermatitis Arnold-Chiari type I malformation Broad neck Hypomagnesemia Abnormally large globe Enlarged cisterna magna Arthralgia of the hip Narcolepsy Soft, doughy skin Tetraplegia Congenital cataract Nausea and vomiting Joint hyperflexibility Nausea Pulmonary hypoplasia Renal cyst Muscle cramps Generalized muscle weakness Respiratory tract infection Aciduria Waddling gait Tetraparesis Pachygyria Heterotopia Renal dysplasia Anorexia Abnormality of the cerebral white matter Abnormality of the pinna Type I diabetes mellitus Fever Generalized arterial tortuosity Curved fingers Internal ophthalmoplegia Telangiectases of the cheeks Abnormality of hair density Aortic tortuosity Dysarthria Gait disturbance Hyperlordosis Elevated serum creatine phosphokinase Gait ataxia Weight loss Arthralgia Jaundice Difficulty walking Telecanthus Decreased liver function Scapular winging Cataplexy Generalized aminoaciduria Medulloblastoma Proximal tubulopathy Episodic vomiting Abnormality of the renal tubule 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 Exercise-induced myalgia Organic aciduria Spastic tetraparesis Rhabdomyolysis Mutism Poor head control Slurred speech Polycystic kidney dysplasia Ventricular fibrillation Difficulty climbing stairs Glycosuria Acute kidney injury Chronic fatigue Fatigable weakness Drowsiness Myoglobinuria Ketosis Progressive proximal muscle weakness Ketonuria Excessive daytime somnolence Delayed ossification of the hand bones


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