Hydrocephalus, and Hypertrophic cardiomyopathy

Diseases related with Hydrocephalus and Hypertrophic cardiomyopathy

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

Top matches:

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Other less relevant matches:

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

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

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium match YUNIS-VARON SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

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

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hypertrophic cardiomyopathy

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

Other less frequent symptoms

Patients with Hydrocephalus and Hypertrophic cardiomyopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Short neck Scoliosis Abnormality of the skeletal system Postnatal growth retardation Micrognathia Cryptorchidism Seizures Umbilical hernia Thin vermilion border Retrognathia Hernia Pulmonic stenosis Strabismus Low-set ears Hyperactivity Abnormal cardiac septum morphology Webbed neck Ventriculomegaly Severe short stature Abnormality of cardiovascular system morphology Hypospadias High palate Anteverted nares Cafe-au-lait spot Intrauterine growth retardation Hepatomegaly Headache Prominent forehead Polyhydramnios High forehead Hypertension Attention deficit hyperactivity disorder Severe global developmental delay Anemia Respiratory tract infection Neoplasm Sparse scalp hair Hyperpigmentation of the skin Relative macrocephaly Epicanthus High, narrow palate Cognitive impairment Hypopigmentation of the skin Cataract Respiratory distress Syndactyly Microphthalmia Glaucoma Abnormality of skin pigmentation Vertigo Dolichocephaly Facial asymmetry Clitoral hypertrophy Wide nasal bridge Abnormality of the testis Delayed speech and language development Hypoglycemia Dilatation Edema Patent ductus arteriosus Cleft palate Abnormality of the urinary system Hypoplasia of the corpus callosum Tetralogy of Fallot Hypertonia Toe syndactyly Dandy-Walker malformation Sensorineural hearing impairment Proptosis Hip dislocation

Rare Symptoms - Less than 30% cases

Patent foramen ovale Upslanted palpebral fissure Tricuspid regurgitation Depressed nasal bridge Sclerocornea Spasticity Abnormal eyelid morphology Flexion contracture Vomiting Delayed skeletal maturation Hypothyroidism Macrotia Ectopic kidney Mitral regurgitation Hypopigmented skin patches Agenesis of corpus callosum Irritability Blindness Thin upper lip vermilion Respiratory insufficiency Motor delay Visual loss Hypogonadism Single transverse palmar crease Micropenis Anal atresia Narrow mouth Specific learning disability Mitral valve prolapse Congenital diaphragmatic hernia Gastroesophageal reflux Tapered finger Craniosynostosis Incoordination Short middle phalanx of finger Absent thumb Abnormality of digit Abnormality of blood and blood-forming tissues Hypoplastic labia majora Visual impairment Multiple cafe-au-lait spots Reduced bone mineral density Pyloric stenosis Behavioral abnormality Spina bifida Aganglionic megacolon Weight loss Autism Autistic behavior Leukemia Nystagmus Redundant neck skin Sparse hair Renovascular hypertension Lymphoma Hypotrichosis Recurrent urinary tract infections Short thumb Choanal atresia Coarctation of aorta Low posterior hairline Astigmatism Renal artery stenosis Small for gestational age Deep philtrum Aplasia/Hypoplasia of the eyebrow Freckling Clinodactyly of the 5th finger Thrombocytopenia Hiatus hernia Pseudoarthrosis Fever Abnormality of the pinna Pectus carinatum Hypertrichosis Hirsutism Long eyelashes Widely spaced teeth Inguinal hernia Mandibular prognathia Short chin Hydrops fetalis Dyspnea Kyphoscoliosis Eczema Downslanted palpebral fissures Ventricular hypertrophy Genu valgum Spastic tetraplegia Failure to thrive in infancy Cutis marmorata Growth hormone deficiency Posteriorly rotated ears Ichthyosis Sleep disturbance Thick eyebrow Severe failure to thrive Small nail Arrhythmia Metatarsus adductus Slow-growing hair Macroglossia Nasal speech Loose anagen hair Arnold-Chiari type I malformation Talipes equinovarus Coarse facial features Corneal opacity Intellectual disability, mild Long philtrum Brachydactyly Short nose Abnormality of the scapula Gingival recession Hypoplastic male external genitalia Abnormal pelvis bone morphology Short proximal phalanx of hallux Projectile vomiting Esophageal stenosis Generalized hypotrichosis Broad secondary alveolar ridge Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Absent sternal ossification Bilateral external ear deformity Left-to-right shunt Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Hypertropia Tapered toe Microcornea Abnormal parietal bone morphology Frontal bossing Abnormality of the liver Abnormality of the kidney Abnormality of the eye Carcinoma Pes planus Ectrodactyly Diabetes mellitus Poor appetite Renal insufficiency Aspiration pneumonia Congestive heart failure Fatigue Esophagitis Hyperreflexia Ataxia Aplasia of the distal phalanx of the hallux Curly eyelashes Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Duplication of internal organs Aplasia/hypoplasia of the 1st metatarsal Aplasia/Hypoplasia of the middle phalanges of the hand Aplasia/Hypoplasia of the clavicles Short phalanx of finger Recurrent hypoglycemia Rocker bottom foot Absent eyebrow Abnormality of dental morphology Sparse eyebrow Volvulus Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Sparse eyelashes Short ribs Short toe Sparse and thin eyebrow Panhypopituitarism Large fontanelles Anonychia Pachygyria Cerebellar vermis hypoplasia Pulmonary arterial hypertension Cardiomegaly Neuronal loss in central nervous system Premature birth Hypodontia Peters anomaly Supernumerary ribs Short sternum Phocomelia Microtia Perimembranous ventricular septal defect Hand oligodactyly Flared metaphysis Short finger Hypoplastic facial bones Aplastic clavicle Absent hand Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Gastroparesis Hypoplasia of the frontal lobes Abnormality of the gastrointestinal tract Multiple skeletal anomalies Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Optic nerve coloboma Small earlobe Severe hearing impairment Bilateral microphthalmos Premature loss of primary teeth Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Abnormality of finger Glossoptosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Thick upper lip vermilion Thin ribs Oligodactyly Pancytopenia Finger syndactyly Spontaneous abortion Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Low anterior hairline Increased body weight Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Elbow flexion contracture Hypoplastic anemia Aspiration Torticollis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Short philtrum Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Hypoplasia of the radius Short metatarsal Pyridoxine-responsive sideroblastic anemia Renal hypoplasia Abnormality of nervous system morphology Brachycephaly Highly arched eyebrow Small hand Downturned corners of mouth Pulmonary hypoplasia Cleft upper lip Micromelia Synophrys Prominent nasal bridge Pallor Camptodactyly Telecanthus Aggressive behavior Proteinuria Conductive hearing impairment Hyperhidrosis Blue sclerae Renal cyst Pneumonia Clinodactyly Abnormality of the dentition Intellectual disability, severe Optic atrophy Triangular face Sepsis Vesicoureteral reflux Otitis media Microdontia Myopia Abnormality of the preputium High myopia Primary hypothyroidism Abnormal aortic morphology Abnormality of the foot Insulin resistance Abnormality of vision Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism 2-3 toe syndactyly Opisthotonus Limited elbow extension Abnormal vertebral morphology Abnormality of the umbilicus Weak cry Myelodysplasia Dislocated radial head Telangiectasia Hypoplastic nipples Abnormality of the genital system Reduced renal corticomedullary differentiation Otitis media with effusion Short palpebral fissure Delayed eruption of teeth Oligohydramnios Sloping forehead Renal agenesis Neutropenia Bruising susceptibility Malrotation of colon Hyperinsulinemia Triphalangeal thumb Reticulocytopenia Self-injurious behavior Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Abnormality of the thumb Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Hypoplastic radial head Arteriovenous malformation Abnormality of the ulna Tracheoesophageal fistula Chromosome breakage Hearing abnormality Proximal placement of thumb External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Acute myeloid leukemia Myeloid leukemia Hydroureter Clubbing Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Bicornuate uterus Pruritus Protruding ear Erythema Amblyopia Status epilepticus Ambiguous genitalia Pigmentary retinopathy Retinal dystrophy Iris coloboma Wide nose Tachycardia Nail dystrophy Dilated cardiomyopathy Skin rash Coloboma Blepharophimosis Respiratory failure Abnormality of the nail Abnormality of metabolism/homeostasis Midface retrusion Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Abnormality of retinal pigmentation Abnormality of dental enamel Pulmonary insufficiency Aplasia cutis congenita Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Supraventricular tachycardia Echolalia Retinal dysplasia Ocular albinism Male pseudohermaphroditism Abnormal eyelash morphology Posterior embryotoxon Anencephaly Anteriorly placed anus Intellectual disability, progressive Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Dysphasia Aphasia Albinism Preauricular pit Ventricular fibrillation Anophthalmia Dermal atrophy Mutism Sacral dimple Thoracolumbar kyphosis Recurrent ear infections Abnormality of the anus Nonketotic hyperglycinemia Deep palmar crease Megalencephaly Redundant skin Joint laxity Skull asymmetry Periorbital fullness Protruding tongue Lissencephaly Left ventricular hypertrophy Delayed myelination Bifid uvula Wide mouth Obesity Absent speech Decreased activity of the pyruvate dehydrogenase complex Splenomegaly Hyperglycinemia Cerebral edema Profound global developmental delay Poor suck Spastic tetraparesis Leukodystrophy Tetraparesis Increased serum lactate Lactic acidosis Apnea Acidosis Myoclonus Encephalopathy Cerebral atrophy Small posterior fossa Kyphosis Broad ribs Cardiac arrest Nonimmune hydrops fetalis Dysostosis multiplex Thoracolumbar scoliosis Spinal cord compression Thoracic kyphosis Hypoplasia of the odontoid process Hyperactive deep tendon reflexes Abnormal heart valve morphology Mild short stature Spondyloepiphyseal dysplasia Pleural effusion Pterygium Recurrent upper respiratory tract infections Opacification of the corneal stroma Gingival overgrowth Recurrent infections Broad-based gait Lumbar hyperlordosis Hip dysplasia Tetraplegia Ascites Neurodegeneration Poor speech Platyspondyly Hyperlordosis Intellectual disability, moderate Muscular hypotonia of the trunk Abnormality of the nervous system Hepatosplenomegaly Skeletal dysplasia Tricuspid valve prolapse Overriding aorta Cerebellar hypoplasia Renal cell carcinoma Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Paraganglioma Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Precocious puberty Back pain Sarcoma Breast carcinoma Venous thrombosis Atherosclerosis Sensorimotor neuropathy Bone pain Hypsarrhythmia Night sweats Carcinoid tumor Overgrowth Embryonal rhabdomyosarcoma Muscular hypotonia Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Axillary freckling Rhabdomyosarcoma Single ventricle Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Abnormality of the cardiovascular system Gastrointestinal hemorrhage Mandibular aplasia Low-set, posteriorly rotated ears Optic nerve hypoplasia Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hoarse voice Thin skin Thick lower lip vermilion Cyanosis Wide intermamillary distance Joint hypermobility Carious teeth Pectus excavatum Overfolded helix Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Coarse hair Hypoplastic toenails Recurrent fractures Abnormality of the intervertebral disk Peripheral axonal neuropathy Paresthesia Malabsorption Paralysis Osteopenia Osteoporosis Depressivity Dysarthria Peripheral neuropathy Pain Abnormality of the nasal bridge Broad fingertip Abnormal location of ears Superior pectus carinatum Dermal translucency Right bundle branch block Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Abnormality of refraction Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Abnormality of the elbow Broad neck Atopic dermatitis Natal tooth Neurodevelopmental delay Abnormality of coagulation Dysplastic tricuspid valve


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