Hydrocephalus, and Hypotrichosis

Diseases related with Hydrocephalus and Hypotrichosis

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

Top matches:

Medium match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Other less relevant matches:

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

Medium match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

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

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 H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hypotrichosis

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect

Common Symptoms - More than 50% cases

Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Intrauterine growth retardation Agenesis of corpus callosum Abnormality of the skeletal system Cleft palate Epicanthus Failure to thrive Dandy-Walker malformation Ptosis Cataract Alopecia Generalized hypotonia Neoplasm Polydactyly Patent ductus arteriosus Umbilical hernia Hypothyroidism Hydronephrosis Coloboma Micrognathia Sparse hair Growth hormone deficiency Depressed nasal bridge Clinodactyly Abnormality of cardiovascular system morphology Iris coloboma Anteverted nares Ventriculomegaly Brachycephaly Broad nasal tip Nystagmus Postaxial polydactyly Camptodactyly Conductive hearing impairment Cleft lip Wide nasal bridge Frontal bossing Micropenis Upslanted palpebral fissure Abnormality of digit Downslanted palpebral fissures Tetralogy of Fallot Edema Abnormality of the pinna Spina bifida occulta Cleft upper lip Proptosis Abdominal pain Syndactyly Single transverse palmar crease Microtia Joint laxity Abnormality of the dentition Muscular hypotonia Abnormal facial shape Hyperpigmentation of the skin Sparse scalp hair Hernia Thick lower lip vermilion Postnatal growth retardation Posteriorly rotated ears Delayed skeletal maturation Abnormal cardiac septum morphology Feeding difficulties High palate Low-set, posteriorly rotated ears Short ribs Hypoplasia of the corpus callosum Decreased testicular size Papule Delayed speech and language development Renal hypoplasia Ichthyosis Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases

Preauricular skin tag Thin skin Long eyelashes Behavioral abnormality Telangiectasia Increased body weight Horseshoe kidney Hypertrophic cardiomyopathy Anophthalmia Short clavicles Hypoglycemia Spina bifida Nevus Congenital diaphragmatic hernia Seizures Cognitive impairment Partial agenesis of the corpus callosum Anemia Cerebral calcification Hypertension Postural instability Coarctation of aorta Wide nose Oral cleft Myopia Craniosynostosis Hepatomegaly Redundant neck skin Enlarged cisterna magna Cerebellar hypoplasia Aplasia/Hypoplasia of the eyebrow Retinopathy Corneal opacity Relative macrocephaly Cardiomyopathy Abnormality of the foot Aganglionic megacolon Vertebral fusion Colitis Vomiting Short nose Stridor Pain Pectus excavatum Facial cleft Abnormality of the neck Bifid nose Overgrowth Ulcerative colitis Arnold-Chiari malformation Coarse facial features Macrotia High forehead Hiatus hernia Fragile nails Gastroesophageal reflux Retrognathia Pulmonary arterial hypertension Respiratory distress Hemiparesis Telecanthus Hemivertebrae Small nail Carious teeth Narrow mouth Short phalanx of finger Optic nerve hypoplasia Hoarse voice Plagiocephaly Thin vermilion border High, narrow palate Flat face Polycythemia Hypertrichosis Wide intermamillary distance Short neck Spasticity Eczema Abnormality of dental morphology Peripheral pulmonary artery stenosis Abnormality of blood and blood-forming tissues Astrocytoma Inguinal hernia Anonychia Short finger Protruding ear Skin tags Sclerocornea Renal hypoplasia/aplasia Cerebellar vermis hypoplasia Cardiomegaly Linear hyperpigmentation Lipodystrophy Abnormality of the face Subcutaneous nodule Hypospadias Muscle stiffness Osteolysis Hypogonadism Sacral dimple Hemangioma Pectus carinatum Dilatation Thin upper lip vermilion Intellectual disability, mild Intestinal malrotation Delayed eruption of teeth Short philtrum Scarring Hypoplasia of the iris Obesity Hypodontia Dolichocephaly Recurrent infections Lipoma Aplasia cutis congenita Toe syndactyly Severe global developmental delay Motor delay Multiple lipomas Skin nodule Gingival overgrowth Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Gynecomastia Arachnoid cyst Type I diabetes mellitus Broad finger Nasal obstruction Histiocytosis Reticulocytopenia Chronic rhinitis Abnormality of cardiovascular system physiology Pancreatic hypoplasia Hyperplasia of the maxilla Communicating hydrocephalus Corneal arcus Generalized lymphadenopathy Myelofibrosis Facial telangiectasia Panniculitis Episcleritis Snoring Recurrent pharyngitis Varicose veins Azoospermia Elevated erythrocyte sedimentation rate Sleep apnea Psoriasiform dermatitis Hyperglycemia Leukocytosis Hallux valgus Increased antibody level in blood Microcytic anemia Aspiration pneumonia Lipoatrophy Scleroderma Episodic fever Severe sensorineural hearing impairment Exocrine pancreatic insufficiency Enlarged kidney Abnormal eyebrow morphology Decreased serum testosterone level Lymphadenopathy Bronchiectasis Gingival recession Hypoplasia of the frontal lobes Renovascular hypertension Renal artery stenosis Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nails Hypoplastic facial bones Aplasia/Hypoplasia of the clavicles Abnormality of the scapula Aplasia/Hypoplasia of the middle phalanges of the hand Generalized hypotrichosis Broad secondary alveolar ridge Absent sternal ossification Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Aplasia of the 1st metacarpal Multiple skeletal anomalies Generalized neonatal hypotonia Short proximal phalanx of hallux Absent nipple Glossoptosis Severe failure to thrive Abnormality of finger Hypoplastic labia majora Hypoplastic scapulae Decreased skull ossification Aplasia/Hypoplasia of the nipples Premature loss of primary teeth Short upper lip Bilateral microphthalmos Small earlobe Aplastic clavicle Congenital microcephaly Arrhinencephaly Wide cranial sutures Increased nuchal translucency Shortening of all distal phalanges of the toes Abnormal pelvis bone morphology Primary amenorrhea Recurrent fractures Hepatosplenomegaly Abnormality of the kidney Apnea Malabsorption Delayed puberty Cervical lymphadenopathy Polyneuropathy Full cheeks Dyspnea Amenorrhea Mitral valve prolapse Bilateral sensorineural hearing impairment Epidermal acanthosis Epistaxis Blue sclerae Hypertriglyceridemia Pes planus Hyperkeratosis Tapered toe Aplasia/hypoplasia of the 1st metatarsal Abnormal parietal bone morphology Abnormality of the occipital bone Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Narrow nasal base Aplasia/Hypoplasia of the proximal phalanx of the hallux Aplasia of the distal phalanges of the hand Aplasia of the distal phalanx of the hallux Diabetes mellitus Sensorineural hearing impairment Flexion contracture Hyperreflexia Fever Splenomegaly Intellectual disability, severe Pneumonia Severe short stature Stiff skin Accelerated skeletal maturation Bilateral camptodactyly Aniridia Narrow nasal bridge Aplasia/Hypoplasia of the skin Telangiectasia of the skin Anteriorly placed anus Hypoplastic nipples Ectrodactyly Oligodactyly Foot polydactyly Mixed hearing impairment Split foot Aplasia/Hypoplasia of the lungs Stenosis of the external auditory canal Myelomeningocele Truncus arteriosus Diastasis recti Acute hepatic failure Macule Hypermelanotic macule Hypoplastic pelvis Dermal atrophy Pointed chin Congenital hip dislocation Multicystic kidney dysplasia Abnormality of dental enamel Oligodontia Recurrent skin infections Reduced number of teeth Short metatarsal Supernumerary nipple Brittle hair Hand polydactyly Ectopia lentis Ectropion Chorioretinal coloboma Mild short stature Open bite Duodenal atresia Lower limb asymmetry Abnormality of epiphysis morphology Nonproductive cough Absence of the sacrum Ridged fingernail Caudal appendage Abnormal palmar dermatoglyphics Abnormality of the mediastinum Cleft ala nasi Osteopathia striata Abnormality of the pulmonary vasculature Upper limb asymmetry Abnormal adipose tissue morphology Bifid ureter Ectopia cordis Cholesteatoma Apocrine hidrocystoma Giant cell tumor of bone Midclavicular hypoplasia Patchy alopecia Reticular hyperpigmentation Verrucae Abnormal cornea morphology Abnormality of the larynx Labial hypoplasia Cholangitis Hypoplasia of teeth Anomalous pulmonary venous return Ureteral duplication Hand oligodactyly Abnormality of hair texture Absent fingernail Total anomalous pulmonary venous return Papilloma Inspiratory stridor Clitoral hypoplasia Absent toenail Rough bone trabeculation Abnormality of the middle ear Foot oligodactyly Abnormality of the nail Hypoplasia of dental enamel Upper eyelid edema Cutis marmorata Choanal atresia Tall stature Low anterior hairline Generalized hirsutism Coxa valga Elevated alkaline phosphatase Precocious puberty Ectopic kidney Hypotelorism Dislocated radial head Short 5th finger Tics Recurrent hypoglycemia Neoplasm of the liver Short sternum Aplasia of the uterus Decreased fetal movement Thick vermilion border Patellar hypoplasia Respiratory tract infection Retroperitoneal fibrosis Seborrheic keratosis Visual impairment Kyphosis Recurrent respiratory infections Aggressive behavior Feeding difficulties in infancy Autistic behavior Hirsutism Wide mouth Synophrys Astigmatism Confusion Bulbous nose Thick eyebrow Short distal phalanx of finger Rectal prolapse Aplasia/Hypoplasia of the patella Omphalocele Facial asymmetry Reduced visual acuity Erythema Camptodactyly of finger Cough Finger syndactyly Nail dystrophy Pruritus Abnormality of skin pigmentation Hyperhidrosis Ectodermal dysplasia Short metacarpal Dental malocclusion Nail dysplasia Abnormality of the skin Interphalangeal joint contracture of finger Split hand Weight loss Blindness Abnormality of the head Intussusception Anterior pituitary hypoplasia Hypotrichosis of the scalp Generalized hypertrichosis Gastric ulcer Hepatoblastoma Ectopic posterior pituitary Duodenal ulcer Facial hypertrichosis Dysphagia Premature thelarche Severe expressive language delay Prominent interphalangeal joints Short distal phalanx of the 5th finger Hypoplastic fifth fingernail Lumbosacral hirsutism Short distal phalanx of the 5th toe Optic atrophy Inverted nipples Curved fingers Aplasia/Hypoplasia of the thumb Pulmonic stenosis Cerebral cortical atrophy Prominent forehead Hyperactivity Cerebral atrophy Hypertonia Attention deficit hyperactivity disorder Joint hypermobility Rigidity Webbed neck Cyanosis Ventricular hypertrophy Low posterior hairline Mitral regurgitation Cafe-au-lait spot Skeletal dysplasia Paralysis Abnormality of the fingernails Widely-spaced maxillary central incisors Agenesis of cerebellar vermis Broad columella Parietal foramina Median cleft palate Absent tibia Hypoplastic frontal sinuses Scleral staphyloma Neurological speech impairment Morning glory anomaly Cranium bifidum occultum Lipoma of corpus callosum Frontal cutaneous lipoma Pectoral muscle hypoplasia/aplasia Midline facial cleft Anterior basal encephalocele Hypocalcemia Abnormal palate morphology Alopecia totalis Abnormality of the intervertebral disk Abnormality of the testis Abnormality of refraction Slow-growing hair Thickened helices Abnormality of the pulmonary artery Dermal translucency Superior pectus carinatum Hypomagnesemia Abnormal location of ears Loose anagen hair Broad fingertip Abnormality of the nasal bridge Gait disturbance Hypoplasia of the bladder Abnormality of brain morphology Abnormally large globe Abnormality of the elbow Infantile muscular hypotonia Overfolded helix Increased intracranial pressure Coarse hair Deep philtrum Nasal speech Patent foramen ovale Failure to thrive in infancy Hypoplastic toenails Broad neck Right bundle branch block Abnormality of coagulation Neurodevelopmental delay Freckling Natal tooth Atopic dermatitis Arnold-Chiari type I malformation Broad philtrum Bifid nasal tip Thrombocytopenia Pelvic kidney Abnormal nasolacrimal system morphology Epibulbar dermoid Tricuspid valve prolapse Subcutaneous lipoma Hemiatrophy Chorioretinitis Neoplasm of the skeletal system Abnormal anterior chamber morphology Neurodevelopmental abnormality Odontoma Osteochondrosis Abnormal cartilage morphology Lipomas of the central neryous system Abnormal eyelash morphology Subcortical cerebral atrophy Alopecia areata Hamartoma Hemihypertrophy Capillary hemangioma Abnormal eyelid morphology Eyelid coloboma Dysostosis multiplex Ectopia pupillae Echolalia Xanthomatosis Abnormal aortic morphology Craniofacial hyperostosis Subvalvular aortic stenosis Bone cyst Porencephalic cyst Interrupted aortic arch Glioma Visceral angiomatosis Nevus flammeus Absent septum pellucidum Conical tooth Adrenal insufficiency Joint contracture of the hand Scrotal hypoplasia Easy fatigability Preaxial polydactyly Radial deviation of finger Diabetes insipidus Occipital encephalocele Heterotopia Median cleft lip Meningocele Coronal craniosynostosis Short columella Calvarial skull defect Widow's peak Preaxial foot polydactyly Lymphedema Abnormality of the genital system Cortical dysplasia Aortic valve stenosis Dysphasia Aphasia Talipes equinovarus Hemiplegia Long philtrum Mutism Intellectual disability, moderate Encephalocele Intellectual disability, profound Talipes Hypoplasia of the maxilla Underdeveloped nasal alae Tetraplegia Oligohydramnios Fine hair Malar flattening Clinodactyly of the 5th finger Thin ribs Multiple impacted teeth Hamartomatous polyposis Fibroma Abnormality of the sense of smell Vertebral wedging Parietal bossing Ovarian carcinoma Severe hydrocephalus Supernumerary ribs Short distal phalanx of the thumb Palmar pits Orbital cyst Calcification of falx cerebri Histiocytoma Abnormality of the skull Cervical ribs Ectopic calcification Cardiac rhabdomyoma Abnormality of the sternum Inflammation of the large intestine Disproportionate tall stature Milia Basal cell carcinoma Long fingers Agenesis of permanent teeth Thoracic scoliosis Medulloblastoma Sprengel anomaly Narrow nose Down-sloping shoulders Short 4th metacarpal Neoplasm of the endocrine system Broad face Brain neoplasm Bifid ribs Odontogenic keratocysts of the jaw Nephritis Sparse eyebrow Short chin Sparse eyelashes Tented upper lip vermilion Abnormality of pelvic girdle bone morphology Abnormality of the urinary system Pyloric stenosis Clitoral hypertrophy Sparse and thin eyebrow Absent eyebrow Rocker bottom foot Short middle phalanx of finger Metatarsus adductus Flared metaphysis Absent thumb Severe hearing impairment Short toe Short thumb Ovarian fibroma Irritability Plantar pits Bridged sella turcica Cardiac fibroma Irregular ossification of hand bones Hamartomatous stomach polyps Polyhydramnios Vesicoureteral reflux Hydrops fetalis Hip dislocation Tapered finger Hypopigmentation of the skin Premature birth Neuronal loss in central nervous system Pachygyria Large fontanelles Melanocytic nevus Glomerulonephritis Dementia Congenital hypothyroidism Atrioventricular canal defect Broad palm Transposition of the great arteries Prematurely aged appearance Abnormality of immune system physiology Impaired pain sensation Neurofibrillary tangles Hydroureter Protruding tongue Thrombocytosis Acute lymphoblastic leukemia Thickened nuchal skin fold Double outlet right ventricle Hypoplastic iliac wing Decreased fertility Alzheimer disease Acute monocytic leukemia Macroglossia Developmental regression Leukemia Anal atresia Short palm Downturned corners of mouth Neutropenia Microdontia Cholelithiasis Type II diabetes mellitus Depressed nasal ridge Open mouth Bilateral single transverse palmar creases Narrow palate Sandal gap Breast carcinoma Senile plaques Hypoxemia Neoplasm of the skin Facial palsy Glaucoma Mandibular prognathia Kyphoscoliosis EEG abnormality Carcinoma Proteinuria Arachnodactyly Renal dysplasia Palmoplantar keratoderma Hypotension Abnormality of the ribs Exotropia Bradycardia Hypogonadotrophic hypogonadism Convex nasal ridge Visual loss Dysarthria Pulmonary edema Abnormality of the fontanelles or cranial sutures Complete atrioventricular canal defect Short middle phalanx of the 5th finger Myeloproliferative disorder Abnormality of the lymphatic system Duodenal stenosis Shallow acetabular fossae Neutrophilia Ataxia Atlantoaxial instability Crackles Transient myeloproliferative syndrome Brushfield spots Round ear Left-to-right shunt Acute megakaryocytic leukemia Midclavicular aplasia


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