Dysarthria, and Inguinal hernia

Diseases related with Dysarthria and Inguinal hernia

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


Top matches:

High match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR


X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

High match MENKES DISEASE


Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

High match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

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Other less relevant matches:

High match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

High match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

High match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

High match CARDIOFACIOCUTANEOUS SYNDROME


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

High match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

High match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Top 5 symptoms//phenotypes associated to Dysarthria and Inguinal hernia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Hernia Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Dysarthria and Inguinal hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Delayed skeletal maturation

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Umbilical hernia

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Long philtrum Hypermetropia Failure to thrive Neoplasm Gait disturbance Abnormal facial shape Behavioral abnormality Depressed nasal bridge Abnormality of the dentition Epicanthus Joint laxity Macrocephaly Sparse hair Feeding difficulties in infancy Nystagmus Hearing impairment Cognitive impairment Cutis laxa Ataxia Intrauterine growth retardation Mandibular prognathia Macrotia Hypertonia Ptosis Joint hyperflexibility Cerebral atrophy Full cheeks Talipes equinovarus Cataract Apraxia Ventriculomegaly Kyphosis Pectus excavatum Hypertelorism Spasticity Short neck Gastroesophageal reflux Coarse facial features Abnormal heart morphology Osteopenia Failure to thrive in infancy Intellectual disability, mild Atrial septal defect Kyphoscoliosis Neurological speech impairment Microcephaly Genu valgum Myopia Dental malocclusion Otitis media Hypertrophic cardiomyopathy Coarctation of aorta Pointed chin Low-set, posteriorly rotated ears Lymphedema Cerebral cortical atrophy Irritability Broad forehead Pulmonic stenosis Hoarse voice Pes cavus Pectus carinatum Hyperhidrosis Prominent forehead Short nose Clinodactyly Abnormality of the fingernails Depressivity Downslanted palpebral fissures Malar flattening Myopathy Hydrocephalus Frontal bossing Pain Hepatomegaly Hyperextensibility of the finger joints Large for gestational age Macroglossia Ventricular septal defect Posteriorly rotated ears Hypertension Low-set ears Arnold-Chiari type I malformation Narrow palate Hyperreflexia Abnormality of the skeletal system Chronic otitis media Heart murmur Neurodevelopmental delay Renal hypoplasia Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Constipation Broad nasal tip Feeding difficulties Dysmetria Small for gestational age Postnatal growth retardation High forehead Hypothyroidism Babinski sign Midface retrusion Anxiety Cardiomyopathy Intellectual disability, moderate Wide mouth Sensorineural hearing impairment High palate Renal insufficiency Open bite Large earlobe Motor delay Hyperkeratosis Abnormality of lipid metabolism Intellectual disability, severe Recurrent respiratory infections Woolly hair Respiratory tract infection Sleep disturbance Hyperextensible skin Malabsorption Thick vermilion border Fine hair Osteoporosis Scarring Redundant skin Hyperpigmentation of the skin

Rare Symptoms - Less than 30% cases


Curly hair Attention deficit hyperactivity disorder Dry skin Short philtrum Triangular face Prominent nasal bridge Central apnea Nausea and vomiting Abnormality of dental enamel Long face Falls Abnormal dermatoglyphics Infantile muscular hypotonia Abnormality of the cerebral white matter Diabetes mellitus Deeply set eye Recurrent infections Abnormality of refraction Mitral valve prolapse Thick lower lip vermilion Tremor Increased nuchal translucency Abnormality of skin pigmentation Hypoplasia of penis Immunodeficiency Sepsis Neurodegeneration Thrombocytopenia Obesity Microdontia Severe short stature Hypogonadism Relative macrocephaly Micropenis Chronic diarrhea Joint hypermobility Hypotelorism Progressive cerebellar ataxia Muscle weakness Aggressive behavior Arthritis Soft skin Gingival overgrowth Amblyopia Hydronephrosis Severe postnatal growth retardation Abnormality of the testis Telecanthus Wide nasal bridge Subvalvular aortic stenosis Pleural effusion Vomiting Hip dysplasia Abnormal mitral valve morphology Type II diabetes mellitus Obsessive-compulsive behavior Cerebellar atrophy Widely spaced teeth Renal agenesis Smooth philtrum Arnold-Chiari malformation Bulbous nose Patellar dislocation Developmental regression Hypoglycemia Epidermal acanthosis Poor suck Hypoplastic toenails Abnormality of the sternum Joint stiffness Thick upper lip vermilion Short chin Acanthosis nigricans Craniosynostosis Unilateral renal agenesis Bilateral cryptorchidism Dilatation High pitched voice Hemangioma Corneal opacity Low posterior hairline Abnormality of the eye Short attention span Abnormal cardiac septum morphology Blindness Hemiparesis Abnormality of the kidney Overgrowth Hypertrichosis Broad thumb Leukemia Tall stature Progressive neurologic deterioration Abnormal palate morphology Open mouth Decreased body weight Polyhydramnios Slurred speech Enuresis Myocardial infarction Autism Nevus Abnormal carotid artery morphology Retinal dystrophy Arterial stenosis Bladder diverticulum High, narrow palate Flexion contracture Visual impairment Vesicoureteral reflux Villous atrophy Premature birth Webbed neck Growth hormone deficiency Abnormality of the cardiovascular system Narrow forehead Astigmatism Cardiomegaly Proptosis Diarrhea Cafe-au-lait spot Apnea Hydrocele testis Absent speech Broad philtrum Flat occiput Abnormality of the voice Thoracolumbar kyphosis Thin nail Generalized hyperpigmentation Celiac disease Nephrocalcinosis Deep-set nails Postural instability Synostosis of joints Long eyelashes Recurrent otitis media Oculomotor apraxia Splenomegaly Deep palmar crease Thickened skin Anteverted nares Down-sloping shoulders Optic atrophy Hypoplasia of the zygomatic bone Bowing of the long bones Dysphagia Congestive heart failure Edema Megalencephaly Concave nail Redundant neck skin Absent eyelashes Large forehead Delayed CNS myelination Limited elbow movement Schwannoma Verrucae Fetal distress Bronchomalacia Fragile nails Abnormal myocardium morphology Abnormality of earlobe Lack of skin elasticity Barrel-shaped chest Labial hypoplasia Progeroid facial appearance Broad femoral neck Asymmetric septal hypertrophy Abnormality of the optic nerve Rhabdomyosarcoma Achilles tendon contracture Premature skin wrinkling Abnormality of the gastrointestinal tract Fasting hypoglycemia Pneumothorax Hypoplasia of teeth Abnormality of the ulna Abnormal hair pattern Dystrophic fingernails Abnormality of the hairline Thickened nuchal skin fold Respiratory failure Abnormal tricuspid valve morphology Abnormality of the optic disc Respiratory insufficiency Large face Anterior creases of earlobe Arrhythmia Carcinoma Oral aversion Abnormality of the nervous system Arthrogryposis multiplex congenita Delayed puberty Tachycardia Wide nose Hematuria Patchy alopecia Multiple plantar creases Tetraplegia Generalized ichthyosis Abnormal location of ears Puberty and gonadal disorders Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Hypoplasia of the frontal lobes Eyelid fasciculation Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Optic nerve dysplasia Ascites Abnormality of the skin Gastrointestinal dysmotility Syringomyelia Keratoconus Neuroblastoma Rhabdomyolysis Ulnar deviation of finger Tracheomalacia Central hypotonia Neonatal hypoglycemia Reduced subcutaneous adipose tissue Obstructive sleep apnea Abnormality of the pulmonary artery Abnormal aortic valve morphology Microscopic hematuria Thickened helices Slow-growing hair Excessive wrinkled skin Rocker bottom foot Eczema Hypoplasia of dental enamel Frontal balding Endocarditis Atrial fibrillation Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Wide anterior fontanel Tricuspid regurgitation Hydrops fetalis Abnormality of hair texture Abnormality of the hair Laryngomalacia Pyloric stenosis Aortic aneurysm Hyperglycemia Papilloma Blepharophimosis Deep plantar creases Retinal vascular tortuosity Peptic ulcer Periorbital edema Rectal prolapse Dysgraphia Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Thyroid hypoplasia Lacrimation abnormality Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Cystic renal dysplasia Abnormal renal morphology Abnormality of the bladder Vocal cord paralysis Facial cleft Restlessness Insomnia Megalocornea Posterior embryotoxon Nevus flammeus Poor coordination Pulmonary artery stenosis Abnormality of the vasculature Multiple renal cysts Blue irides Peripheral pulmonary artery stenosis Chronic constipation Right ventricular hypertrophy Tubulointerstitial nephritis Abnormality of the neck Abnormality of the cerebral vasculature Dyslexia Cerebral ischemia Gait imbalance Periorbital fullness Decreased plasma carnitine Nocturia Renal artery stenosis High hypermetropia Horizontal nystagmus Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Polydactyly Abnormality of eye movement Stage 5 chronic kidney disease Postaxial polydactyly Renal cyst Postaxial hand polydactyly Encephalocele Mutism Stellate iris Hypoplasia of the brainstem Molar tooth sign on MRI Nephronophthisis Abnormal retinal morphology Occipital encephalocele Abnormal corpus callosum morphology Meningoencephalocele Episodic tachypnea Brainstem dysplasia Neonatal breathing dysregulation Functional abnormality of male internal genitalia Dyssynergia Coronary artery stenosis Impaired visuospatial constructive cognition Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Calcification of the aorta Early onset of sexual maturation Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Prematurely aged appearance Vertebral segmentation defect Hematemesis Respiratory distress Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Increased corneal curvature Cleft palate Patent ductus arteriosus Enlarged cerebellum Elevated serum creatine phosphokinase Cerebellar hypoplasia Abdominal pain Glaucoma Arthralgia Pes planus Proteinuria Cleft lip Hyperlordosis Protruding ear Myofiber disarray Macrocephaly at birth Paralysis Hypopnea Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Shyness Concentric hypertrophic cardiomyopathy Loose anagen hair Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Autistic behavior Stroke Premature graying of hair Cholelithiasis Sacral dimple Ischemic stroke Schizophrenia Reduced bone mineral density Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Dysphonia Hypercalciuria Hypercalcemia Progressive hearing impairment Radioulnar synostosis Precocious puberty Portal hypertension Nephritis Abnormality of dental morphology Tracheoesophageal fistula Glucose intolerance Polyuria Loss of consciousness Hallux valgus Bicuspid aortic valve Spina bifida occulta Carious teeth Ventricular hypertrophy Oral cleft Everted lower lip vermilion Hypodontia Sudden cardiac death Chest pain Esotropia Dehydration Tetralogy of Fallot Abnormality of extrapyramidal motor function Hypsarrhythmia Small nail Hemivertebrae Mitral regurgitation Abnormal form of the vertebral bodies Involuntary movements Recurrent urinary tract infections Nephrolithiasis Aortic valve stenosis Narrow face Increased bone mineral density Increased body weight Hypogonadotrophic hypogonadism Enlarged kidney Severe sensorineural hearing impairment Abnormal eyelash morphology Flared femoral metaphysis Galactorrhea Prominent fingertip pads Short fourth metatarsal Vertebral wedging Horizontal eyebrow Sacrococcygeal teratoma Lumbar kyphosis Limited knee extension Calcaneovalgus deformity Abnormally low-pitched voice Flared humeral metaphysis Dysharmonic bone age Anemia Peripheral neuropathy Hypoplasia of the corpus callosum Rigidity Retinopathy Teratoma Poor fine motor coordination Dilated cardiomyopathy Limited elbow extension Accelerated skeletal maturation Back pain Large hands Radial deviation of finger Metatarsus adductus Overlapping toe Bilateral talipes equinovarus Absent septum pellucidum Dimple chin Secondary amenorrhea Inverted nipples Acute lymphoblastic leukemia Prolactin excess Diastasis recti Hypoplastic iliac wing Broad face Dilation of lateral ventricles Abnormal pyramidal sign Synophrys Short ribs Chronic lung disease Truncal obesity Long nose Cerebellar vermis atrophy Increased circulating gonadotropin level Low hanging columella Misalignment of teeth Shuffling gait Glioma Ectopic kidney Multinodular goiter Gastrointestinal stroma tumor Long neck Brachydactyly Headache Hypospadias Upslanted palpebral fissure Hyperactivity Cortical gyral simplification Sensory axonal neuropathy Sensory neuropathy Cutaneous photosensitivity Polyneuropathy Convex nasal ridge Decreased testicular size Limb undergrowth Pigmentary retinopathy Bradykinesia Sloping forehead Broad-based gait Postural tremor Abnormal lung morphology Insulin resistance Lymphopenia Hypergonadotropic hypogonadism Bone marrow hypocellularity Leukopenia Goiter Dysdiadochokinesis Coxa valga Joint contracture of the hand Conductive hearing impairment Severe global developmental delay Recurrent infection of the gastrointestinal tract Cutaneous amyloidosis Generalized reticulate brown pigmentation Fatigue Dementia Brachycephaly Jaundice Narrow chest Broad eyebrow Hypopigmentation of the skin Recurrent fractures Chorea Gastrointestinal hemorrhage Generalized-onset seizure Intellectual disability, profound Tetraparesis Sparse scalp hair Urethral stricture Corneal scarring Abnormality of the metaphysis Recurrent pneumonia Dystonia Abnormality of metabolism/homeostasis Visual loss Pneumonia Photophobia Bronchiectasis Hypohidrosis Opacification of the corneal stroma Enterocolitis Corneal dystrophy Hemiplegia Keratitis Inflammation of the large intestine Colitis Amyloidosis Ulcerative colitis Focal dystonia Choreoathetosis Abnormality of the face Pachygyria Retrognathia Trichorrhexis nodosa Venous insufficiency Spontaneous hematomas Multiple joint dislocation Hypocupremia Metaphyseal spurs Therapeutic abortion Neonatal hypotonia Chondrocalcinosis Camptodactyly Abnormality of the pinna Platyspondyly Talipes Round face Lymphoma Nail dysplasia Amenorrhea Aplasia/Hypoplasia of the abdominal wall musculature Pili torti Wormian bones Cerebral hemorrhage Joint dislocation Spastic tetraparesis Shock Coarse hair Intracranial hemorrhage Metaphyseal widening Mask-like facies Myopathic facies Hypothermia Osteomyelitis Opisthotonus Prominent occiput Tarsal synostosis Prolonged neonatal jaundice Hypopigmentation of hair Exostoses Atypical scarring of skin Thin upper lip vermilion Camptodactyly of finger Alopecia of scalp Encephalopathy Abnormality of joint mobility Antineutrophil antibody positivity Abnormality of dental structure Progressive joint destruction Synovial hypertrophy Flattened moderately deformed vertebrae Spinocerebellar tract disease in lower limbs Alopecia Hypoplastic inferior ilia EEG abnormality Erythema Pruritus Nail dystrophy Dolichocephaly Hypotrichosis Ichthyosis Peripheral axonal neuropathy Abnormality of the ilium Decreased pulmonary function Hepatic steatosis Vacuolated lymphocytes Abnormality of the helix Spondylolisthesis Craniofacial hyperostosis Abnormality of the rib cage Abnormal cornea morphology Synovitis Abnormal echocardiogram Cranial hyperostosis Generalized abnormality of skin Abnormality of the gingiva Long ear Retinal thinning Cerebral dysmyelination Oligosacchariduria Spondylolysis Increased vertebral height Increased hepatic glycogen content Bruising susceptibility Palmoplantar keratoderma Dysostosis multiplex Infantile spasms Melanocytic nevus Cubitus valgus Absent eyebrow Malnutrition Hydroureter Aplasia/Hypoplasia of the eyebrow Neurofibromas Long palpebral fissure Scaling skin Abnormal heart valve morphology Multiple cafe-au-lait spots Biparietal narrowing Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Atopic dermatitis Ectropion Sparse eyebrow Abdominal distention Sparse eyelashes Abnormal bleeding Intestinal malrotation Progressive visual loss Inflammatory abnormality of the skin Cerebral visual impairment Aspiration Abnormality of the nail Aplasia/Hypoplasia of the corpus callosum Bilateral ptosis Sleep apnea Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Deep philtrum Brittle hair Reduced ejection fraction Impaired smooth pursuit Poor speech Speech apraxia Sprengel anomaly Lipoma Cone-shaped epiphyses of the phalanges of the hand Short columella Abnormality of the clavicle 11 pairs of ribs Enlarged joints Broad columella Proportionate short stature Tethered cord Stiff neck Spinal dysraphism Short upper lip Expressive language delay Varicocele Persistent left superior vena cava Pseudoarthrosis Short clavicles Preauricular pit Congenital posterior urethral valve Interphalangeal joint contracture of finger Thin vermilion border Hirsutism Downturned corners of mouth Small hand Hypoplasia of the maxilla Prominent nose Underdeveloped nasal alae Short palpebral fissure Impulsivity Short thumb Generalized hirsutism Finger clinodactyly Abnormality of the hand Nasal speech Trigonocephaly Language impairment Clubbing Congenital pseudoarthrosis of the clavicle Epididymal cyst Delusions Recurrent bacterial infections Pancytopenia Psychosis Depressed nasal ridge Limb ataxia Hallucinations Spastic gait Low anterior hairline Increased intracranial pressure Peripheral demyelination Prominent supraorbital ridges Bowing of the legs Bowel incontinence Femoral bowing Thickened calvaria Bronchitis Limb dystonia Aseptic necrosis Optic disc pallor Decreased antibody level in blood Enlarged naris Gait ataxia Curved fingers Broad fingertip Abnormal soft palate morphology Generalized cerebral atrophy/hypoplasia Mesocardia Skeletal muscle atrophy Areflexia Skeletal dysplasia Delayed myelination Hepatosplenomegaly Mental deterioration Abnormality of the foot Confusion Retinal degeneration Thick eyebrow Highly arched eyebrow Gliosis Absence of renal corticomedullary differentiation



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