Hydrocephalus, and Abdominal pain

Diseases related with Hydrocephalus and Abdominal pain

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

Top matches:

Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Other less relevant matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

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

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

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC Is also known as methylmalonic aciduria with homocystinuria, type cblc|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc|cobalamin c defect|cblc defect

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Fatigue
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC

Top 5 symptoms//phenotypes associated to Hydrocephalus and Abdominal pain

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent respiratory infections Seizures Growth delay Hypertelorism Strabismus Cognitive impairment Neoplasm Macrocephaly Coarse facial features Abnormality of the skeletal system Abnormality of the dentition Restrictive ventilatory defect Microcephaly Micrognathia Inguinal hernia Umbilical hernia Hernia Kyphosis Pain Corneal opacity Thick vermilion border Delayed eruption of teeth Abnormality of the ribs Hirsutism Kyphoscoliosis Broad nasal tip Hepatosplenomegaly Osteopenia Proptosis Coxa valga Generalized hirsutism Carious teeth Diarrhea Ataxia Short ribs Nystagmus Spina bifida occulta Diastasis recti Failure to thrive Hepatomegaly Hypotrichosis Glaucoma Splenomegaly Vomiting Abnormality of dental enamel Congestive heart failure Wide nose Synophrys Abnormal pyramidal sign Lymphadenopathy Low-set ears Abnormal heart valve morphology Cryptorchidism Depressed nasal bridge Fatigue Brachydactyly Dyspnea Hematuria Abnormality of skin pigmentation Cleft palate Abnormal facial shape Camptodactyly of finger Headache Respiratory insufficiency Constipation Pallor

Rare Symptoms - Less than 30% cases

Cleft upper lip Elbow flexion contracture Iris coloboma Opacification of the corneal stroma Mitral valve calcification Widely spaced teeth Increased intracranial pressure Back pain Aortic valve calcification Abnormal vertebral morphology Protuberant abdomen Multiple joint contractures Papule Retrognathia Polydactyly Toe walking Microphthalmia Arthropathy Syndactyly Frontal bossing Downslanted palpebral fissures Spinal canal stenosis Coloboma Cleft lip Wide nasal bridge Heart murmur Motor delay Abnormality of digit Cataract Visual loss Sparse hair Rhinitis Congenital diaphragmatic hernia Horseshoe kidney Generalized hypotonia Dermatan sulfate excretion in urine Calcification of falx cerebri Myelopathy Abnormal diaphysis morphology Joint laxity Hydronephrosis Urinary glycosaminoglycan excretion Hypoglycemia Hernia of the abdominal wall Heparan sulfate excretion in urine J-shaped sella turcica Hip subluxation Muscular hypotonia Abnormality of mucopolysaccharide metabolism Ptosis Abnormality of the gingiva Feeding difficulties Delayed speech and language development Visual impairment Intrauterine growth retardation Ventricular septal defect Behavioral abnormality Agenesis of corpus callosum Abnormal nerve conduction velocity Clinodactyly Patent ductus arteriosus Abnormality of the pinna Abnormality of the tonsils Increased body weight Vertebral fusion Peripheral visual field loss Exotropia Long eyelashes Obstructive sleep apnea Spina bifida Hypertrichosis Retinopathy Renal hypoplasia Dysostosis multiplex Abnormal form of the vertebral bodies Tracheal stenosis Communicating hydrocephalus Colitis Wide mouth Thoracic scoliosis Intestinal malrotation Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Ulcerative colitis Thick eyebrow Cor pulmonale Flared iliac wings Astigmatism Abnormality of lysosomal metabolism Severe global developmental delay Sagittal craniosynostosis Thickened skin Abnormal heart morphology Recurrent otitis media Delayed skeletal maturation Stridor Arnold-Chiari malformation Myopia Gait disturbance Dysphagia Edema Depressivity Arrhythmia Congenital hip dislocation Macule Proteinuria Aggressive behavior Mental deterioration Ophthalmoplegia Malabsorption Abnormality of epiphysis morphology Abnormality of eye movement Neurodegeneration Abdominal distention Abnormality of dental morphology Abnormal cornea morphology Interphalangeal joint contracture of finger Hemiplegia Anemia Hypertension Fever Thrombocytopenia Weight loss Carcinoma Subcutaneous nodule Cerebral palsy Nephroblastoma Myocardial infarction Renal neoplasm Neoplasm of the liver Short clavicles Hypoplasia of teeth Optic atrophy Respiratory distress Respiratory failure Cough Ascites Split hand Encephalopathy Pectus carinatum Dolichocephaly Sleep disturbance Exertional dyspnea Nyctalopia Craniosynostosis Joint stiffness Retinal degeneration Macroglossia Conductive hearing impairment Abnormality of the sternum Asthma Skeletal dysplasia Limitation of joint mobility Genu valgum Hip dysplasia Pes cavus Progressive visual loss Lumbar hyperlordosis Abnormality of the skin Cardiomegaly Microdontia Cardiomyopathy Short neck Sensorineural hearing impairment Anteverted nares Progressive neurologic deterioration Decreased body weight Total anomalous pulmonary venous return Papilloma Lower limb muscle weakness Carpal bone hypoplasia Abnormality of hair texture Ureteral duplication Hand oligodactyly Shield chest Limb muscle weakness Bifid nose Nasal obstruction Midclavicular hypoplasia Cholangitis Skin nodule Lower limb asymmetry Abnormality of retinal pigmentation Aortic valve stenosis Wide cranial sutures Duodenal atresia Platybasia Hypoplastic pelvis Knee flexion contracture Anomalous pulmonary venous return Verrucae Abnormality of the larynx Labial hypoplasia Inspiratory stridor Abnormality of the metacarpal bones Easy fatigability Coarse hair Hypermetropia Absent fingernail Clitoral hypoplasia Papilledema Lower limb spasticity Spinal cord compression Arthralgia Chronic sinusitis Nonproductive cough Hyperkeratosis Abnormality of the pulmonary vasculature Abnormal adipose tissue morphology Bifid ureter Abnormality of the ulna Blepharitis Severe short stature Intellectual disability, mild Ectopia cordis Linear hyperpigmentation Cholesteatoma Apocrine hidrocystoma Giant cell tumor of bone Midclavicular aplasia Hypoplastic iliac wing Osteopathia striata Absent toenail Upper limb asymmetry Rough bone trabeculation Abnormality of the middle ear Foot oligodactyly Dilation of lateral ventricles Platyspondyly Hyperactive deep tendon reflexes Reticular hyperpigmentation Sparse pubic hair Patchy alopecia Cleft ala nasi Absence of the sacrum Ridged fingernail Caudal appendage Broad ribs Abnormal palmar dermatoglyphics Abnormality of the mediastinum Chronic otitis media Sparse axillary hair Hydrocele testis Otitis media Dry skin Peripheral edema Abnormal CNS myelination Enlargement of the wrists Abnormality of the middle ear ossicles Cervical myelopathy Calvarial hyperostosis Thoracolumbar kyphoscoliosis Short mandibular rami Cervical kyphosis Lumbar kyphosis Atlantoaxial dislocation Abnormality of the pubic bone Hypoplasia of the femoral head C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Flaring of rib cage Abnormal hand morphology Prominent sternum Abnormality of joint mobility Biconcave vertebral bodies Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Recurrent ear infections Retinal fold Chronic rhinitis Mucopolysacchariduria Anterior rib cupping Large face Sclerosis of skull base Difficulty standing Anterior open bite Meckel diverticulum Narrow pelvis bone Flared nostrils Large sella turcica Broad ischia Delayed tarsal ossification Abnormal aortic valve morphology Malnutrition Decreased liver function External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Cachexia Hypokalemia Bilateral talipes equinovarus Celiac disease Generalized muscle weakness Mitochondrial myopathy Progressive external ophthalmoplegia Hypomagnesemia Slender build Gastrointestinal dysmotility Sensory ataxic neuropathy Lethargy Anorexia Hepatic fibrosis Unsteady gait Thick skull base Stiff interphalangeal joints Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Abnormality of the tympanic membrane Abnormal mandible coronoid process morphology Abnormality of the cerebral white matter Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Muscle weakness Peripheral neuropathy Talipes equinovarus Ventriculomegaly Myopathy Abnormality of peripheral nerve conduction Constrictive median neuropathy Corneal crystals Flexion contracture Abnormality of cranial sutures Abnormality of the glenoid fossa Abnormality of the lumbar spine Widely patent coronal suture Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Abnormality of the humeral epiphysis Skeletal muscle atrophy Abnormality of femoral epiphysis Long philtrum Pneumonia Prominent forehead Elevated hepatic transaminase Apnea Stroke Inability to walk High, narrow palate Anterior scalloping of vertebral bodies Abnormal metaphyseal trabeculation Full cheeks Thickened ribs Abnormality of the radius Abnormality of the optic disc Delayed menarche Cervical instability Frontal hirsutism Optic nerve compression Progressive flexion contractures Abnormality of the acetabulum Abnormality of the sella turcica Limited shoulder movement Exercise-induced muscle stiffness Dilated third ventricle Abnormality of the breast Small abnormally formed scapulae Short tubular bones of the hand Posterior scalloping of vertebral bodies Abnormality of the skull base Everted lower lip vermilion Abnormality of the cardiovascular system Endocardial fibroelastosis Beaking of vertebral bodies Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Abnormality of the skull Abnormality of the clavicle Gingivitis Abnormality of the respiratory system Large earlobe Hypoplasia of the odontoid process Upper airway obstruction Hypoplastic ilia Angina pectoris Conical tooth Foam cells Pulmonary edema Abnormal mitral valve morphology Seborrheic dermatitis Palpebral edema Protruding tongue Intellectual disability, profound Progressive hearing impairment Mitral regurgitation Encephalocele Left ventricular hypertrophy Chronic diarrhea Gingival overgrowth Spastic paraparesis Coxa vara Aortic regurgitation Corneal dystrophy Thickened calvaria Sleep apnea Hyperammonemia Recurrent upper respiratory tract infections Prominent supraorbital ridges Language impairment Metatarsus adductus Flared metaphysis Coronary artery atherosclerosis Acute hepatic failure Severe expressive language delay Truncus arteriosus Sleep myoclonus Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Horizontal supranuclear gaze palsy Cardiac valve calcification Abnormality of ion homeostasis Abnormality of the acoustic reflex Spasticity Orthopnea Epicanthus Dysarthria Pectus excavatum Brachycephaly Mandibular prognathia EEG abnormality Telecanthus Erlenmeyer flask deformity of the femurs Abnormal saccadic eye movements Arachnodactyly Multiple myeloma Aseptic necrosis Hepatocellular carcinoma Thoracic kyphosis Slow saccadic eye movements Vertebral compression fractures Hypercoagulability Supranuclear gaze palsy Abnormal myocardium morphology Spontaneous hematomas Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Restrictive deficit on pulmonary function testing Protein-losing enteropathy Astrocytosis Generalized osteosclerosis Abnormal thrombosis Facial palsy Oral cleft Lower limb hyperreflexia Short 4th metacarpal Agenesis of permanent teeth Sprengel anomaly Narrow nose Fragile nails Down-sloping shoulders Skin tags Abnormality of the neck Basal cell carcinoma Neoplasm of the endocrine system Broad face Brain neoplasm Astrocytoma Medulloblastoma Ectopic calcification Supernumerary ribs Long fingers Milia Postaxial polydactyly Muscle stiffness Palmoplantar keratoderma Nevus Hypotension Cerebral calcification Hemiparesis Hyperpigmentation of the skin Bradycardia Hypogonadotrophic hypogonadism Disproportionate tall stature Hemivertebrae Neoplasm of the skin Relative macrocephaly Glomerulonephritis Nephritis Melanocytic nevus Inflammation of the large intestine Bulbar palsy Abnormal retinal morphology Hamartomatous polyposis Abnormality of the lymphatic system Multiple renal cysts Atelectasis Abnormality of female internal genitalia Pneumothorax Bronchiolitis Chylothorax Abnormal urinary color Hemoptysis Shagreen patch Bronchiolitis obliterans Renal angiomyolipoma Retinal hamartoma Ungual fibroma Cystic lung disease Pulmonary lymphangiomyomatosis Pulmonary infiltrates Emphysema Tremor Oculomotor nerve palsy Irritability Nausea and vomiting Cranial nerve paralysis Sarcoma Hypercalcemia Ovarian neoplasm Poor appetite Teratoma Melanoma Neoplasm of the central nervous system Embryonal neoplasm Internal hemorrhage Chest pain Gastrointestinal hemorrhage Abnormal lung morphology Lymphedema Chylopericardium Hypertonia Pericardial effusion Portal hypertension Increased bone mineral density Osteolysis Oculomotor apraxia Leukopenia Increased susceptibility to fractures Hypoalbuminemia Cholelithiasis Abnormality of the thorax Bone pain Clubbing Menorrhagia Pulmonary fibrosis Increased antibody level in blood Opisthotonus Petechiae Interstitial pulmonary abnormality Lymphopenia Hydrops fetalis Dystonia Cirrhosis Dementia Myoclonus Osteoporosis Difficulty walking Rigidity Generalized tonic-clonic seizures Delayed puberty Generalized myoclonic seizures Intention tremor Progressive cerebellar ataxia Abnormal bleeding Syncope Cyanosis Pancytopenia Pulmonary arterial hypertension Epistaxis Cervical ribs Fibroma Myelomeningocele Ectodermal dysplasia Nail dystrophy Pruritus Toe syndactyly Abnormality of the foot Facial asymmetry Hypodontia Short metacarpal Microtia Dental malocclusion Nail dysplasia Overgrowth Postaxial hand polydactyly Thin skin Omphalocele Hypoplasia of dental enamel Finger syndactyly Abnormal cardiac septum morphology Short phalanx of finger Blindness Facial hypertrichosis Premature thelarche Prominent interphalangeal joints Short distal phalanx of the 5th finger Hypoplastic fifth fingernail Lumbosacral hirsutism Short distal phalanx of the 5th toe Abnormality of cardiovascular system morphology Scarring Obesity Alopecia Hyperhidrosis Reduced visual acuity Gastroesophageal reflux Camptodactyly Erythema Telangiectasia Hoarse voice Duodenal ulcer Ectrodactyly Narrow nasal bridge Aplasia/Hypoplasia of the skin Telangiectasia of the skin Anteriorly placed anus Hypoplastic nipples Aplasia cutis congenita Facial cleft Oligodactyly Short finger Aniridia Foot polydactyly Hypoplasia of the iris Split foot Hiatus hernia Aplasia/Hypoplasia of the lungs Stenosis of the external auditory canal Mixed hearing impairment Hypermelanotic macule Abnormality of the nail Short metatarsal Pointed chin Multicystic kidney dysplasia Renal hypoplasia/aplasia Oligodontia Recurrent skin infections Reduced number of teeth Dermal atrophy Brittle hair Supernumerary nipple Hand polydactyly Ectopia lentis Ectropion Chorioretinal coloboma Anophthalmia Mild short stature Open bite Intussusception Ectopic posterior pituitary Abnormality of the sense of smell Thin upper lip vermilion Hypoplasia of the corpus callosum Atrial septal defect Dilatation Recurrent infections Hypospadias Posteriorly rotated ears Low-set, posteriorly rotated ears Hamartomatous stomach polyps Feeding difficulties in infancy Postnatal growth retardation Respiratory tract infection Autistic behavior Short philtrum Confusion Bulbous nose High palate Irregular ossification of hand bones Single transverse palmar crease Orbital cyst Vertebral wedging Parietal bossing Ovarian carcinoma Multiple impacted teeth Severe hydrocephalus Short distal phalanx of the thumb Palmar pits Histiocytoma Cardiac fibroma Curved fingers Bifid ribs Cardiac rhabdomyoma Odontogenic keratocysts of the jaw Ovarian fibroma Plantar pits Bridged sella turcica Short distal phalanx of finger Growth hormone deficiency Hepatoblastoma Aplasia of the uterus Partial agenesis of the corpus callosum Dislocated radial head Short 5th finger Enlarged cisterna magna Tics Recurrent hypoglycemia Short sternum Rectal prolapse Anonychia Patellar hypoplasia Aplasia/Hypoplasia of the patella Abnormality of the head Anterior pituitary hypoplasia Hypotrichosis of the scalp Generalized hypertrichosis Gastric ulcer Ectopic kidney Cutis marmorata Dandy-Walker malformation Sparse scalp hair Tetralogy of Fallot Eczema Hypotelorism Decreased fetal movement Cerebellar vermis hypoplasia Small nail Thick lower lip vermilion Choanal atresia Precocious puberty Tall stature Preauricular skin tag Low anterior hairline Accelerated skeletal maturation Sacral dimple Hemangioma Elevated alkaline phosphatase Megaloblastic bone marrow


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