Hydrocephalus, and Hodgkin lymphoma

Diseases related with Hydrocephalus and Hodgkin lymphoma

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

Top matches:

High match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Other less relevant matches:

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

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

Low 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

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hodgkin lymphoma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Lymphoma

Uncommon Symptoms - Between 30% and 50% cases

Anemia

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of skin pigmentation

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Cataract Growth delay Frontal bossing Ventriculomegaly Thrombocytopenia Nystagmus Micrognathia High palate Abnormality of cardiovascular system morphology Pain Carcinoma Abnormal heart morphology Cafe-au-lait spot Multiple cafe-au-lait spots Acute myeloid leukemia Microcephaly Epicanthus Cryptorchidism Chromosome breakage Ptosis Abnormality of the skeletal system Visual impairment Intrauterine growth retardation Proptosis Weight loss Abnormality of the kidney Behavioral abnormality Delayed speech and language development Ataxia Failure to thrive Macrocephaly Generalized hypotonia Global developmental delay Myopia Headache Abnormality of the dentition Blindness Optic atrophy Downslanted palpebral fissures Malar flattening Atrial septal defect Hypertrophic cardiomyopathy Depressed nasal bridge Neurofibromas Reduced bone mineral density Facial asymmetry Abnormal cardiac septum morphology Astrocytoma Pancytopenia Low-set, posteriorly rotated ears Hydronephrosis Cleft palate Malabsorption Hypospadias Overgrowth Autism Pectus excavatum Myelodysplasia Abnormal facial shape Postnatal growth retardation Myeloid leukemia Clinodactyly of the 5th finger Cerebral cortical atrophy Brachydactyly Irritability Telangiectasia Motor delay

Rare Symptoms - Less than 30% cases

Horseshoe kidney Conductive hearing impairment Scarring Joint hyperflexibility Sleep disturbance Recurrent urinary tract infections Sleep apnea Tibial bowing Back pain Chronic otitis media Skeletal dysplasia Excessive wrinkled skin Abnormality of femur morphology Chronic myelogenous leukemia Bone marrow hypocellularity Respiratory insufficiency Hyperpigmentation of the skin Arthralgia Leukopenia Sparse eyelashes Pulmonary fibrosis Visual loss Glaucoma Cognitive impairment Skin rash Sarcoma Aplastic anemia Osteosarcoma Acute monocytic leukemia Leiomyosarcoma Gastroesophageal reflux Soft tissue sarcoma Flared metaphysis Hypertension Hyperreflexia Vomiting Squamous cell carcinoma Severe short stature Generalized hyperpigmentation Low-set ears Hypothyroidism Delayed skeletal maturation Abnormality of the foot Genu valgum Peripheral axonal neuropathy Tetralogy of Fallot Abnormality of the cardiovascular system Coarctation of aorta Aganglionic megacolon Bone pain Spina bifida Hepatomegaly Congestive heart failure Umbilical hernia Abnormality of the eye Dolichocephaly Astigmatism Pruritus Bruising susceptibility Abnormality of vision Hydroureter Abnormality of the ulna Abnormality of the testis Abnormal aortic valve morphology Edema Cerebral atrophy EEG abnormality Aggressive behavior Neurological speech impairment Oculomotor apraxia Functional abnormality of the gastrointestinal tract Pulmonic stenosis Osteopenia Telecanthus Ventricular septal defect Craniosynostosis Attention deficit hyperactivity disorder Toe syndactyly Dry skin Sloping forehead Fine hair Narrow face Spina bifida occulta Aplasia/Hypoplasia of the corpus callosum Aplasia/Hypoplasia of the thumb Submucous cleft hard palate Underdeveloped supraorbital ridges Anal stenosis Short nose Depressivity Prominent forehead Anal atresia Vesicoureteral reflux Short thumb Failure to thrive in infancy Tracheoesophageal fistula Hypoplasia of the ulna Absent thumb Absent radius Aplasia/Hypoplasia of the radius Abnormal localization of kidney Dysarthria Cardiomyopathy Sparse scalp hair Abnormal vertebral morphology Joint hypermobility Melanocytic nevus Hyperhidrosis Osteoporosis Palmoplantar keratoderma Cavernous hemangioma Megalencephaly Incoordination Bone cyst Broad thumb Chronic diarrhea Cutis marmorata Renal cell carcinoma Alopecia Abnormality of the uterus Recurrent infections Hypertonia Respiratory distress Dilatation Intellectual disability, mild Kyphosis Arteriovenous malformation Narrow mouth Breast carcinoma Palmoplantar hyperkeratosis Polymicrogyria Neoplasm of the central nervous system Cerebral calcification Gastrointestinal hemorrhage Gliosis Immunodeficiency Hypopigmentation of the skin Cellulitis Hypopigmented skin patches Cranial nerve paralysis Meningioma Hemangioma Small for gestational age Oligohydramnios Nail dystrophy Increased intracranial pressure Low-grade fever Aplasia/Hypoplasia of the iris Abnormality of the thumb Irregular hyperpigmentation Abnormal cerebellum morphology External ear malformation Complete duplication of thumb phalanx Partial duplication of thumb phalanx Duplicated collecting system Duodenal stenosis Meckel diverticulum Abnormality of the hypothalamus-pituitary axis Hearing abnormality Abnormality of the upper limb Abnormal eyelid morphology Primary hypothyroidism Abnormality of nervous system morphology Reticulocytopenia Macroglossia Bicornuate uterus Abnormality of chromosome stability B-cell lymphoma Abnormal renal morphology Hypoplasia of the maxilla Abnormal aortic morphology Anemic pallor Clubbing of toes Anteverted nares Coarse facial features Macrotia High forehead Polyhydramnios Hyperkeratosis Posteriorly rotated ears Constipation Inguinal hernia Encephalopathy Hernia Long philtrum Splenomegaly Intellectual disability, severe Short neck Dysphagia Decreased fertility in males Prolonged G2 phase of cell cycle Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Abnormal carotid artery morphology Deficient excision of UV-induced pyrimidine dimers in DNA Feeding difficulties Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Muscular hypotonia Abnormality of blood and blood-forming tissues Decreased fetal movement Ectopic kidney Vestibular Schwannoma Pseudoarthrosis Single ventricle Renal artery stenosis Renovascular hypertension Axillary freckling Embryonal rhabdomyosarcoma Neuroma Dural ectasia Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Epigastric pain Fibular bowing Arterial fibromuscular dysplasia Night sweats Brain neoplasm Aqueductal stenosis Parathyroid adenoma Pheochromocytoma Complete atrioventricular canal defect Anomalous pulmonary venous return Paraganglioma Gastrointestinal stroma tumor Carcinoid tumor Rhabdomyosarcoma Nasolacrimal duct obstruction Glioma Schwannoma Renal phosphate wasting Lisch nodules Spinal neurofibromas Cerebral artery stenosis Glucose intolerance Insulin resistance Intention tremor Neutropenia Renal agenesis Nausea and vomiting Choanal atresia Abnormality of the genital system Hypergonadotropic hypogonadism Subcutaneous nodule Type I diabetes mellitus Azoospermia Renal hypoplasia/aplasia Decreased antibody level in blood Abnormality of the urinary system Hyperinsulinemia Triphalangeal thumb Vertigo Hip dislocation Tibial pseudoarthrosis Microphthalmia Brow ptosis Neoplasm of the skin Fever Fatigue Lymphopenia Renal insufficiency Patent ductus arteriosus Finger syndactyly Hypogonadism Upslanted palpebral fissure Diabetes mellitus Gynecomastia Pes planus Exotropia Abnormality of the liver Short palpebral fissure Hypermetropia Feeding difficulties in infancy Generalized ichthyosis Frontal balding Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Laryngeal cleft Increased nuchal translucency Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Endocarditis Sparse or absent eyelashes Abnormality of the auditory canal Abnormality of refraction Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Delayed CNS myelination Abnormal myocardium morphology Deep palmar crease Multiple lentigines Gastrointestinal dysmotility Abnormal mitral valve morphology Slow-growing hair Thickened helices Subvalvular aortic stenosis Hyperextensibility of the finger joints Abnormality of the pulmonary artery Abnormality of hair texture Inappropriate crying Multiple palmar creases Abnormality of the gastrointestinal tract Disinhibition Pathologic fracture Basal ganglia calcification Axonal loss Neurofibrillary tangles Acute leukemia Senile plaques Cerebral edema Primitive reflex Personality changes Inappropriate behavior Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Caudate atrophy Abnormal adipose tissue morphology Lack of insight Alzheimer disease Abnormality of the hand Eyelid fasciculation Myoclonus Multiple plantar creases Oral aversion Spasticity Gait disturbance Hypoplasia of the corpus callosum Babinski sign Dementia Developmental regression Leukoencephalopathy Abnormality of movement Chorea Limitation of joint mobility Urinary incontinence Memory impairment Peripheral demyelination Apraxia Abnormality of epiphysis morphology Short attention span Premature skin wrinkling Respiratory tract infection Myocardial infarction Dental malocclusion Webbed neck Growth hormone deficiency Progressive visual loss Narrow forehead Cardiomegaly Low posterior hairline Hemiparesis Intestinal malrotation Inflammatory abnormality of the skin Open mouth Decreased body weight Thickened skin Lymphedema Cerebral visual impairment Aspiration Premature birth Nevus Narrow palate Ichthyosis Erythema Sparse hair Pectus carinatum Papule Abnormality of the cerebral white matter Neoplasm of the endocrine system Hypotrichosis Long face Full cheeks Falls Bulbous nose Retinal dystrophy Thick vermilion border Hepatic steatosis High, narrow palate Abdominal distention Abnormal bleeding Abnormality of the nail Intellectual disability, moderate Hypoplasia of the zygomatic bone Biparietal narrowing Malnutrition Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Infantile spasms Abnormality of the sternum Long palpebral fissure Abnormal heart valve morphology Curly hair Large for gestational age Poor appetite Atopic dermatitis Alopecia of scalp Abnormal eyelash morphology Arnold-Chiari type I malformation Enlarged kidney Absent eyelashes Open bite Absent eyebrow Cutis laxa Deep philtrum Abnormal palate morphology Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Relative macrocephaly Poor suck Hyperextensible skin Redundant skin Obsessive-compulsive behavior Brittle hair Bilateral ptosis Sparse eyebrow Scaling skin Pleural effusion Ectropion Cubitus valgus Heart murmur Myocardial fibrosis Hypsarrhythmia Gangrene Otitis media Colorectal polyposis Endometrial carcinoma Micromelia Confusion Oral cleft Follicular thyroid carcinoma Lumbar hyperlordosis Apnea Epidermal acanthosis Tetraparesis Osteoarthritis Recurrent otitis media Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Hyperlordosis Cleft lip Rhizomelia Neoplasm of the thyroid gland Pineoblastoma Neuroblastic tumors Flexion contracture Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Midface retrusion Abnormality of the nervous system Obesity Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Rigidity Progressive macrocephaly Varicocele Short toe Pinealoma Communicating hydrocephalus Spinal canal stenosis Abnormality of the elbow Obstructive sleep apnea Spinal cord compression Osteopetrosis Generalized joint laxity Upper airway obstruction Neuroblastoma Dysuria Central apnea Abnormality of the penis Cor pulmonale Multiple epiphyseal dysplasia Hypoxemia Myelopathy Hip contracture Disproportionate short stature Clonus Abnormality of pelvic girdle bone morphology Paraparesis Acanthosis nigricans Thyroid adenoma Infantile muscular hypotonia Short long bone Disproportionate short-limb short stature Tinnitus Genu varum Angioid streaks of the fundus Intestinal polyp Epiphyseal dysplasia Ovarian carcinoma Spondyloepiphyseal dysplasia Short femoral neck Bowel incontinence Limited elbow extension Retinal calcification Iris neovascularization Thoracolumbar kyphosis Keratoconjunctivitis Blepharitis Oral leukoplakia Ridged nail Testicular atrophy Cerebellar hypoplasia Esophageal stricture Lacrimal duct stenosis Hepatosplenomegaly Urethral stenosis Reticular hyperpigmentation Pancreatic adenocarcinoma Abnormal leukocyte morphology Phimosis Reticulated skin pigmentation Brittle scalp hair Premature loss of teeth Muscular hypotonia of the trunk Generalized hypopigmentation of hair Dermal atrophy Decreased testicular size Truncal ataxia Conjunctivitis Sepsis Abnormal intestine morphology Anosmia Pterygium Restrictive ventilatory defect Cirrhosis Neonatal respiratory distress Epiphora Carious teeth Premature graying of hair Abnormality of coagulation Increased antibody level in blood Fragile teeth Split nail Pineal cyst Fibrosarcoma Anisocoria Dysplastic gangliocytoma of the cerebellum Trichilemmoma Leukocoria Malar rash Glioblastoma multiforme Burkitt lymphoma Vitreous hemorrhage Vitritis Histiocytoma Liposarcoma Sebaceous gland carcinoma Neoplasm of the eye Hyphema Ewing sarcoma Ocular pain Retinoblastoma Pterygium of nails Postural instability Anal mucosal leukoplakia Hyporeflexia Skeletal muscle atrophy Tremor Myopathy Diarrhea Lobular carcinoma in situ Anorexia Inflammatory abnormality of the eye Multiple trichilemmomata Merkel cell skin cancer Uveitis Ductal carcinoma in situ Anemia of inadequate production Conjunctival hamartoma Buphthalmos Recurrent ear infections Subcutaneous lipoma Increased reactive oxygen species production Limited elbow movement Sagittal craniosynostosis Abnormality of the thyroid gland Oxycephaly Anterior plagiocephaly Patellar hypoplasia Hand oligodactyly Lambdoidal craniosynostosis Rib fusion Aplasia/Hypoplasia of the patella Ulnar bowing Brachyturricephaly Metopic synostosis Abnormality of the carpal bones Urogenital fistula Flat forehead Bilateral conductive hearing impairment Poikiloderma Aplasia of metacarpal bones Oligodactyly Trigonocephaly Hamartoma Hallux valgus Narrow nasal bridge Anteriorly placed anus Short humerus Cystic hygroma Rectovaginal fistula Fibular hypoplasia Multiple lipomas Abnormality of the ureter Carpal synostosis Shallow orbits Coronal craniosynostosis Choanal stenosis Bilateral radial aplasia Bicoronal synostosis Hypoplasia of the radius Venous thrombosis Specific learning disability Melanoma Mitral valve prolapse Sensorimotor neuropathy Drooling Atherosclerosis Precocious puberty Goiter Clitoral hypertrophy Sensory axonal neuropathy Hypophosphatemia Freckling Osteomalacia Severe vision loss Overweight Recurrent fractures Paresthesia Perineal fistula Peripheral neuropathy Limited shoulder movement Persistent cloaca Carpal bone aplasia Midface capillary hemangioma Anomalous splenoportal venous system Aphalangy of the hands Unilateral radial aplasia Macule Dysdiadochokinesis Hyperactivity Kyphoscoliosis Hand polydactyly Hypoglycemia Intracranial hemorrhage Autistic behavior Paralysis Hyperthyroidism Abnormality of the metacarpal bones Neonatal short-limb short stature Long penis Hamartomatous polyposis Papilloma Protruding ear Enlarged polycystic ovaries Wide mouth Blepharophimosis Cellular immunodeficiency Generalized hyperkeratosis Small hand Short foot Delayed eruption of teeth Asthma Eczema Intestinal polyposis Ovarian cyst Fibroma Decreased proportion of CD4-positive T cells Wide anterior fontanel Childhood onset short-limb short stature Central sleep apnea Cervical myelopathy Obstructive lung disease Hypopnea Cervical cord compression Iritis Small foramen magnum Brain stem compression Adenoma sebaceum Limited hip extension Trident hand Spinal stenosis with reduced interpedicular distance Myelitis Lumbar kyphosis in infancy Muscle weakness Colonic diverticula Cutaneous photosensitivity Low anterior hairline Proximal muscle weakness Bifid uvula Agenesis of corpus callosum Scaphocephaly Brachycephaly Hashimoto thyroiditis Prominent nasal bridge Broad forehead Thyroiditis Abnormality of the vasculature Prominent nose Underdeveloped nasal alae Hypotelorism Bowing of the long bones Renal dysplasia Large fontanelles Ovarian neoplasm Lipoma Papilledema Abnormality of the fingernails Skin tags Furrowed tongue Sandal gap Sacral dimple Hypoplastic toenails Metatarsus adductus Delayed cranial suture closure Hydrocele testis Acute lymphoblastic leukemia Prolactin excess Hypoparathyroidism Abnormality of the antihelix Sparse lateral eyebrow Rectal prolapse Abnormality of neutrophils Abnormality of female external genitalia Abnormality of thumb phalanx Euphoria


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Behavioral abnormality, related diseases and genetic alterations Optic atrophy and Osteoporosis, related diseases and genetic alterations