Hydrocephalus, and Constipation

Diseases related with Hydrocephalus and Constipation

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

Top matches:

Medium match CRANIOPHARYNGIOMA

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Medium match ATTRV30M AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION 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 Hydrocephalus and Constipation

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Cleft palate Wide nasal bridge Short stature Failure to thrive Microcephaly Frontal bossing Short neck Inguinal hernia Conductive hearing impairment Macrocephaly Umbilical hernia Behavioral abnormality Growth delay Generalized hypotonia Anteverted nares Camptodactyly of finger Osteopenia Joint stiffness Gastroesophageal reflux Feeding difficulties Prominent forehead Patent ductus arteriosus Gait disturbance Abnormality of the skeletal system Nystagmus Dolichocephaly Downslanted palpebral fissures Hypothyroidism Visual impairment Cryptorchidism Strabismus Kyphosis Cardiomyopathy Anteriorly placed anus Craniosynostosis Intestinal malrotation Sleep disturbance Optic atrophy Vomiting Long philtrum Headache Ventricular septal defect Atrial septal defect Posteriorly rotated ears Infantile muscular hypotonia Depressivity Spinal canal stenosis Abnormal heart valve morphology Respiratory insufficiency Synophrys Absent speech Malar flattening Motor delay Upslanted palpebral fissure Coarse facial features Severe global developmental delay High palate Hip dysplasia Ptosis Abnormality of the ribs Generalized hirsutism Anal atresia Cleft upper lip Aganglionic megacolon Agenesis of corpus callosum Glaucoma Abnormal pyramidal sign Cataract Wide anterior fontanel Metatarsus adductus Obstructive sleep apnea Communicating hydrocephalus Abnormal aortic valve morphology Carious teeth Epicanthus Mitral regurgitation Abnormality of cardiovascular system morphology Hypospadias Lumbar hyperlordosis Multiple joint contractures Sagittal craniosynostosis Abnormality of the dentition Abnormal form of the vertebral bodies Choanal atresia Dysphasia Proptosis Pes cavus Low-set ears Splenomegaly Depressed nasal bridge Hernia Abnormality of the tonsils Myelopathy Interphalangeal joint contracture of finger Abnormality of dental enamel Telecanthus Camptodactyly Feeding difficulties in infancy Pectus carinatum Genu valgum Myopia Asthma Anxiety Obesity Muscle weakness Diarrhea Increased intracranial pressure Sleep apnea Congestive heart failure Hypotension Cardiomegaly Arrhythmia Spasticity

Rare Symptoms - Less than 30% cases

Arthropathy Neonatal hypotonia Missing ribs Dysostosis multiplex Cor pulmonale Atlantoaxial dislocation Abnormal diaphysis morphology Flexion contracture Myocardial infarction Diastasis recti Cerebral calcification Clinodactyly Cerebral cortical atrophy Aggressive behavior Arnold-Chiari type I malformation Wide mouth Attention deficit hyperactivity disorder Amenorrhea Split hand Heterotopia Pachygyria Sacral dimple Pyloric stenosis Abnormal nerve conduction velocity Thoracic scoliosis Delayed closure of the anterior fontanelle Coma Shallow orbits Aortic root aneurysm Autism Abnormality of the pinna Flared iliac wings Talipes equinovarus Ventriculomegaly Ataxia Dilatation Abnormal heart morphology Brachycephaly Retrognathia Joint laxity Low-set, posteriorly rotated ears Apnea Joint hyperflexibility Abnormality of the sternum Arachnodactyly High, narrow palate Bifid uvula Tracheal stenosis Papilledema Orthostatic hypotension Polyphagia Joint contracture of the hand Narrow palate Aortic regurgitation Arnold-Chiari malformation Impotence Intellectual disability, mild Narrow mouth Abnormality of the optic disc Urinary glycosaminoglycan excretion Wide nose Thick vermilion border Macroglossia Limitation of joint mobility Protuberant abdomen Progressive visual loss Microdontia Rhinitis Recurrent otitis media Thickened skin Abnormal vertebral morphology Elbow flexion contracture Retinal degeneration Hernia of the abdominal wall Heparan sulfate excretion in urine Coxa valga Opacification of the corneal stroma Widely spaced teeth J-shaped sella turcica Hip subluxation Back pain Heart murmur Abnormality of the gingiva Toe walking Restrictive ventilatory defect Hirsutism Peripheral visual field loss Decreased body weight Abnormality of glycosaminoglycan metabolism Hypertrichosis Nausea and vomiting Tetralogy of Fallot Abnormality of the skin Dysarthria Chronic otitis media Foot polydactyly Abnormal lung lobation Abnormality of the skull Delayed speech and language development Seborrheic dermatitis Increased size of nasopharyngeal adenoids Platybasia Dermatan sulfate excretion in urine Abnormality of lysosomal metabolism Hepatomegaly Recurrent respiratory infections Abdominal pain Kyphoscoliosis Skeletal dysplasia Hepatosplenomegaly Nyctalopia Corneal opacity Abnormality of mucopolysaccharide metabolism Hypermetropia Hypogonadism Hand polydactyly Dilation of lateral ventricles Tremor Self-injurious behavior Dementia Spastic paraparesis Midface retrusion Hyporeflexia Abnormal autonomic nervous system physiology Bowel incontinence Hydronephrosis Delayed ossification of carpal bones Cleft lip Abnormality of the liver Short philtrum Thickened helices Arthritis Oral cleft Leukoencephalopathy Inability to walk Downturned corners of mouth Respiratory failure Broad nasal tip EEG abnormality Peripheral demyelination Plagiocephaly Neurological speech impairment Abnormality of the cerebral white matter Weight loss Mandibular prognathia Megalencephaly Gliosis Constrictive median neuropathy Increased CSF protein Abnormal renal physiology Hypertension Large face Facial palsy Abnormality of eye movement Dysphagia Delayed myelination Clinodactyly of the 5th finger Abnormal blistering of the skin Anterior open bite Blepharophimosis Abnormality of the eye Hypoplasia of penis Abnormality of the kidney Deeply set eye Micropenis Pointed chin Meckel diverticulum Delayed skeletal maturation Epileptic encephalopathy Narrow palpebral fissure Cerebral atrophy Myopathy Spastic tetraparesis Hypoplasia of the corpus callosum Diaphyseal thickening Brachydactyly Narrow pelvis bone Abnormality of the humeral epiphysis Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Short phalanx of finger Coloboma Hypsarrhythmia Depressed nasal ridge Coarctation of aorta Ventricular hypertrophy Brain atrophy Renal cyst Optic disc pallor Short foot Hepatic steatosis Flared nostrils Tetraparesis Polymicrogyria Poor speech Biconcave vertebral bodies Sclerosis of skull base Dilated cardiomyopathy Chronic rhinitis Small for gestational age Large fontanelles Telangiectasia Difficulty standing Microtia Retinal fold Mucopolysacchariduria Recurrent ear infections Stereotypy Abnormal cardiac septum morphology Abnormality of the skull base Large sella turcica Mitral valve calcification Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Bullet-shaped phalanges of the hand Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils Delayed menarche Cervical instability Proximal tapering of metacarpals Aortic valve calcification Frontal hirsutism Wide cranial sutures Abnormal mandibular ramus morphology Shield chest Nasal obstruction Abnormal cornea morphology Carpal bone hypoplasia Abnormality of premolar morphology Abnormal mandible coronoid process morphology Broad long bone diaphyses Peripheral edema Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of the wing of the ilium Corneal crystals Abnormality of the radius C1-C2 subluxation Optic nerve compression Widely patent coronal suture Abnormal metaphyseal trabeculation Abnormal hand morphology Small abnormally formed scapulae Short tubular bones of the hand Posterior scalloping of vertebral bodies Cranial nerve paralysis Abnormality of the sella turcica Abnormality of femoral epiphysis Dilated third ventricle Anterior scalloping of vertebral bodies Abnormality of cranial sutures Abnormality of the glenoid fossa Abnormality of the lumbar spine Prominent sternum Anterior rib cupping Abnormality of the breast Enlargement of the wrists Calcification of falx cerebri Thickened ribs Hypoplasia of the femoral head Abnormality of the pubic bone Progressive flexion contractures Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Exercise-induced muscle stiffness Abnormality of the acetabulum Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Limited shoulder movement Abnormality of the middle ear ossicles Abnormal intestine morphology Failure to thrive in infancy Hypercholesterolemia Abnormal parietal bone morphology Widened subarachnoid space Bilobate gallbladder Congenital talipes calcaneovalgus Aplasia/Hypoplasia involving bones of the feet Short clavicles Hyperplastic labia majora Abnormality of the cerebral ventricles Abnormality of the femoral neck Abnormality of the renal pelvis Protruding tongue Solitary renal cyst Thickened calvaria Coronary artery atherosclerosis Agenesis of the anterior commissure Hypoplasia of the odontoid process Ebstein anomaly of the tricuspid valve Edema Abnormality of the clavicle Horizontal eyebrow Abnormal external genitalia Talipes valgus Abnormal social behavior Gingivitis Cranial nerve VI palsy Noncompaction cardiomyopathy Palpebral edema Asymmetry of the ears Oppositional defiant disorder Abnormality of the hairline Hypoplastic female external genitalia Bifid ribs Recurrent lower respiratory tract infections Abnormality of the elbow Skeletal muscle atrophy Visual loss Beaking of vertebral bodies Hyperammonemia Intellectual disability, profound Recurrent upper respiratory tract infections Progressive neurologic deterioration Encephalocele Left ventricular hypertrophy Chronic diarrhea Corneal dystrophy Prominent supraorbital ridges Progressive hearing impairment Cerebral palsy Long eyelashes Coxa vara Abnormality of epiphysis morphology Exotropia Abnormality of the cardiovascular system Full cheeks Pneumonia Stridor Dyspnea Elevated hepatic transaminase Mental deterioration Pallor Flared metaphysis Retinopathy Stroke Delayed eruption of teeth Language impairment Dry skin Abnormality of skin pigmentation Thick eyebrow Everted lower lip vermilion Hemiplegia Neurodegeneration Abnormality of the respiratory system Large earlobe Bicuspid aortic valve Self-mutilation Slender long bone Neuroblastoma Congenital hypothyroidism Submucous cleft hard palate Epileptic spasms Overweight Hiatus hernia Absent septum pellucidum Abnormality of peripheral nerve conduction Abnormal eyebrow morphology Coronal craniosynostosis Ocular albinism Short 5th finger Abnormality of the gastrointestinal tract Telangiectasia of the skin Abnormality of the immune system Lower limb asymmetry Broad femoral neck Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Delayed gross motor development Abnormality of vision Patent foramen ovale Gingival overgrowth Clitoral hypertrophy Infantile spasms Congenital sensorineural hearing impairment Rhinorrhea Hemiplegia/hemiparesis Delayed cranial suture closure Hypermelanotic macule Macule High hypermetropia Optic nerve coloboma Hypoplasia of teeth Hypoplastic labia minora Hypoplastic ilia Abnormal corpus callosum morphology Impaired social interactions Angina pectoris Abnormality of female external genitalia Abnormality of the mandible Gastric ulcer Abnormality of the anus Cavum septum pellucidum Expressive language delay Abnormality of brain morphology Aortic arch aneurysm Upper airway obstruction Annular pancreas Muscle flaccidity Periventricular leukomalacia Abnormality of chromosome stability Abnormality of the neck Redundant neck skin Endocardial fibroelastosis 11 pairs of ribs Abnormal mitral valve morphology Abnormality of the testis Delayed CNS myelination Volvulus Pulmonary edema Biliary tract abnormality Foam cells Left ventricular noncompaction Abnormality of the spleen Conical tooth Rib fusion Colpocephaly Abnormal left ventricle morphology Lambdoidal craniosynostosis Restrictive cardiomyopathy Sparse pubic hair Craniopharyngioma Abnormality of the nasal bone Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test High forehead Pes planus Abnormality of the frontal bone Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Protruding ear Sudden loss of visual acuity Pectus excavatum Respiratory distress Central diabetes insipidus Pseudobulbar signs Drowsiness Poor coordination Hypothermia Bulbar signs Aqueductal stenosis Hypersomnia Progressive macrocephaly Pain Recurrent singultus Hyperpigmented nevi Microcoria Diffuse demyelination of the cerebral white matter Fever Peripheral neuropathy Central adrenal insufficiency Cerebral ischemia Muscle fibrillation Diabetes insipidus Hammertoe Disproportionate tall stature Slender finger Fragile skin Thin ribs Dislocated radial head Microglossia Metaphyseal widening Genu recurvatum Increased susceptibility to fractures Spondylolisthesis Cloverleaf skull Aplasia/Hypoplasia of the abdominal wall musculature Dermal translucency Elbow dislocation Aortic aneurysm Pituitary hypothyroidism Dental malocclusion Narrow chest Abnormality of the foot Excessive daytime somnolence Joint hypermobility Hypoplasia of the maxilla Prolactin excess Mitral valve prolapse Ectopia lentis Blue sclerae Proportionate short stature Hypopituitarism Abnormality of the metaphysis Bowing of the long bones Amblyopia Hyperextensible skin Atrophy/Degeneration affecting the brainstem Progressive spasticity Supernumerary ribs Autistic behavior Short nose Paraparesis Vasculitis Hallucinations Thin upper lip vermilion Abnormality of the nervous system Hemiparesis Atrioventricular block Bilateral sensorineural hearing impairment Short distal phalanx of finger Highly arched eyebrow Tapered finger Small nail Sparse scalp hair Intellectual disability, severe Cachexia Neuronal loss in central nervous system Cardiac amyloidosis Stroke-like episode Sensory ataxia Urinary retention Psychomotor deterioration Orthostatic hypotension due to autonomic dysfunction Vitreous floaters Amyloid deposition in the vitreous humor Rheumatoid arthritis Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Axonal degeneration Aphasia Malnutrition Cerebral hemorrhage Short toe Tented upper lip vermilion Emotional lability Diplopia Hyperlordosis Cough Dysmetria Tetraplegia Sudden cardiac death Chorea Clonus Renal insufficiency Leukodystrophy Muscle stiffness Dysphonia Encephalitis Precocious puberty Oral-pharyngeal dysphagia Developmental regression Diabetes mellitus Elevated alkaline phosphatase Urinary incontinence Cupped ear Long palpebral fissure Migraine Abnormally large globe Profound global developmental delay Shortening of all distal phalanges of the fingers Polyneuropathy Hyperhidrosis Nephropathy Peripheral axonal neuropathy Paresthesia Paraplegia Hyperreflexia Malabsorption Areflexia Lateral clavicle hook Gastroparesis Broad ribs Abnormality of the pharynx Chronic obstructive pulmonary disease Abnormality of the uterus Corneal neovascularization Tetany Hypoplasia of the thymus Abnormal thrombocyte morphology Small earlobe Varicose veins Arrhinencephaly Impaired T cell function Abnormal pulmonary valve morphology Anorectal anomaly Retinal arteriolar tortuosity Hypertensive crisis Atelectasis Abnormal eyelid morphology Multiple suture craniosynostosis Acne Laryngomalacia Nasal speech Polycystic kidney dysplasia Cholelithiasis Abnormality of the thorax Overfolded helix Hyperthyroidism Truncus arteriosus Posterior embryotoxon Bipolar affective disorder Turricephaly Hypoparathyroidism Patellar dislocation Multiple renal cysts Meningocele Abnormal aortic arch morphology Tricuspid atresia Hypopigmented skin patches Neoplasm Easy fatigability Coarse hair Abnormality of dental morphology Exertional dyspnea Fatigue Hyperactive deep tendon reflexes Blepharitis Knee flexion contracture Chronic sinusitis Spinal cord compression Hypoplastic iliac wing Abnormality of the ulna Hydrocele testis Sparse axillary hair Abnormality of the metacarpal bones Recurrent infections Postnatal growth retardation Platyspondyly Occipital myelomeningocele Multiple myeloma Hypoglycemia Severe short stature Hyperkeratosis Arthralgia Limb muscle weakness Congenital hip dislocation Lower limb muscle weakness Astigmatism Otitis media Lower limb spasticity Abnormality of retinal pigmentation Aortic valve stenosis Short ribs Schizophrenia Purpura Arterial tortuosity Open mouth Single transverse palmar crease Triangular face Prominent nose Webbed neck Fine hair Thick lower lip vermilion Broad thumb Unsteady gait Dental crowding Gynecomastia Optic nerve hypoplasia Relative macrocephaly Congenital contracture Chorioretinal coloboma Thin vermilion border Broad forehead Radial deviation of finger Hypogonadotrophic hypogonadism Dural ectasia Abdominal wall muscle weakness Cranial asymmetry Hallux varus Minimal subcutaneous fat C1-C2 vertebral abnormality Increased body weight Sparse hair Syndactyly Type II diabetes mellitus Cerebellar hypoplasia Hyperactivity Macrotia Rigidity Intellectual disability, moderate Impulsivity Bowing of the legs Lethargy Long face Confusion Polyhydramnios Myalgia Autoimmunity Prominent nasal bridge Delayed puberty Bulbous nose Microphthalmia Vesicoureteral reflux Gastrointestinal hemorrhage Specific learning disability Renal hypoplasia Spina bifida Hypocalcemia Thrombocytopenia Immunodeficiency High pitched voice Abnormality of the nasopharynx Broad hallux Partial agenesis of the corpus callosum Anal stenosis Skin tags Facial hypotonia Gastrointestinal dysmotility Frontal upsweep of hair Vertigo Prominent fingertip pads Microtia, first degree Postnatal macrocephaly Auricular pit Facial wrinkling Intrauterine growth retardation Nausea Delayed ossification of the hand bones


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