Pain, and Wide intermamillary distance

Diseases related with Pain and Wide intermamillary distance

In the following list you will find some of the most common rare diseases related to Pain and Wide intermamillary distance that can help you solving undiagnosed cases.


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION


NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Medium match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

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Other less relevant matches:

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Low match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE


Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

Low match MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY


Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

Top 5 symptoms//phenotypes associated to Pain and Wide intermamillary distance

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Pain and Wide intermamillary distance. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Short neck Abnormal facial shape Pectus excavatum Scoliosis Short stature Feeding difficulties Clinodactyly Long philtrum Hypertelorism Hearing impairment Abnormality of cardiovascular system morphology Ptosis Downslanted palpebral fissures Abnormality of the skeletal system Ventricular septal defect Depressed nasal bridge Prominent forehead Broad forehead Neoplasm Muscular hypotonia Cognitive impairment Severe short stature Pes planus Conductive hearing impairment Ventriculomegaly Thin upper lip vermilion Anteverted nares Intellectual disability, mild Epicanthus Low-set ears Cataract Strabismus Talipes equinovarus Aortic valve stenosis Multicystic kidney dysplasia Narrow forehead Thick vermilion border Nystagmus Posteriorly rotated ears Brachydactyly Open mouth Constipation Apnea Microtia Motor delay Cryptorchidism Gastroesophageal reflux Flexion contracture

Rare Symptoms - Less than 30% cases


Abdominal distention Autistic behavior Coarse facial features Mutism Oligohydramnios Aggressive behavior Feeding difficulties in infancy Thin vermilion border Sparse hair Brachycephaly Intellectual disability, severe Small hand Sleep disturbance Broad nasal tip Hypoplasia of the corpus callosum Autism Upslanted palpebral fissure Short metatarsal Coarctation of aorta Clinodactyly of the 5th finger Arrhythmia Hernia Hydrocephalus High forehead Hydronephrosis Frontal bossing Macrocephaly Narrow palate Aganglionic megacolon Sensorineural hearing impairment Webbed neck Specific learning disability Wide nasal bridge Pyloric stenosis High, narrow palate Polyhydramnios Dilatation Asymmetry of the thorax Patent ductus arteriosus Abnormal heart morphology Misalignment of teeth Hypoglycemia Echolalia Dysphasia Encephalopathy Acidosis Postnatal growth retardation Respiratory distress Amblyopia Hepatomegaly Headache Congestive heart failure Nephroblastoma Failure to thrive Self-injurious behavior Supernumerary nipple Dental malocclusion Delayed speech and language development Tapered finger Growth delay Micrognathia Atrial septal defect Overfolded helix Low posterior hairline Aphasia Fatigue Myopia Cardiomyopathy Tracheomalacia Deeply set eye Thick lower lip vermilion Kyphoscoliosis Small epiphyses Dolichocephaly Lumbar hyperlordosis Long face Ventricular hypertrophy Downturned corners of mouth Skeletal dysplasia Sparse and thin eyebrow Neurological speech impairment Spina bifida Bilateral single transverse palmar creases Bicuspid aortic valve Spina bifida occulta Overlapping toe Widely spaced teeth Pulmonic stenosis Cubitus valgus Shield chest Underdeveloped nasal alae Highly arched eyebrow Craniosynostosis Astigmatism Platyspondyly Hyperactivity Thick eyebrow Delayed eruption of teeth Short metacarpal Hyperlordosis Camptodactyly Hyporeflexia Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Craniofacial osteosclerosis Metaphyseal striations Osteopathia striata Laryngotracheomalacia Large iliac wings Peripheral neuropathy Facial hyperostosis Laryngeal web High iliac wings Broad finger Elevated hepatic transaminase Unilateral facial palsy Elevated serum creatine phosphokinase Paranasal sinus hypoplasia Metaphyseal irregularity Respiratory insufficiency Agenesis of corpus callosum Renal insufficiency Optic disc pallor Respiratory failure Frequent falls Broad clavicles Long eyelashes Pallor Abnormality of visual evoked potentials Hyperreflexia Mild microcephaly Hypoplasia of the pons Congenital microcephaly Straight clavicles Alobar holoprosencephaly Facial paralysis Rough bone trabeculation Holoprosencephaly Delayed cranial suture closure Hyperostosis Flat occiput Metaphyseal widening Increased susceptibility to fractures Progressive microcephaly Organic aciduria Nasal speech Cutaneous syndactyly Osteolysis Lactic acidosis Microretrognathia Rotary nystagmus Spontaneous abortion Increased bone mineral density Joint contracture of the hand Abnormal vertebral morphology Dental crowding Large fontanelles Omphalocele Abnormality of the metaphysis Increased serum lactate Hypoplastic left heart Flexion contracture of toe Ectopic anus Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Large forehead Broad ribs Thoracic dysplasia Babinski sign Visual field defect Osteopetrosis Pierre-Robin sequence Ankylosis Fibular hypoplasia Anal stenosis Submucous cleft hard palate Natal tooth Thickened calvaria Partial agenesis of the corpus callosum Mixed hearing impairment Neonatal hypotonia Short philtrum Dilated cardiomyopathy Aplasia/Hypoplasia of the corpus callosum Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Abnormal autonomic nervous system physiology Hepatic calcification Finger clinodactyly Basal ganglia cysts Intellectual disability, progressive Abnormal palate morphology Sleep apnea Postnatal microcephaly Hypopigmented skin patches Coarse hair Elevated long chain fatty acids Incoordination Clubbing Cupped ear Hodgkin lymphoma Hyperventilation Hiatus hernia Increased muscle lipid content Truncal ataxia Cyanosis Macrovesicular hepatic steatosis Prominent nasal bridge Protruding ear Abnormality of the pinna Intellectual disability, moderate Anxiety Mandibular prognathia Gait ataxia Micropenis Pes cavus Pneumonia Absent speech Convex nasal ridge Ataxia Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Severe global developmental delay Single transverse palmar crease Hypopigmentation of the skin Full cheeks Prominent nose Nonketotic hypoglycemia Increased total bilirubin Small nail Small cerebral cortex Cardiomegaly Sloping forehead Aciduria Coma Metabolic acidosis Hepatic steatosis Happy demeanor Large beaked nose Square face Failure of eruption of permanent teeth Elbow flexion contracture Narrow foot Bulbous nose Intermittent hyperventilation Broad fingertip Polymicrogyria Hepatic failure Wide mouth Triangular nasal tip Lethargy Overhanging nasal tip Renal dysplasia Knee flexion contracture Dicarboxylic aciduria Hypoketotic hypoglycemia Acrocyanosis Biventricular hypertrophy Abnormality of nervous system morphology Esophagitis Clubbing of fingers Long toe Abnormality of the helix Ureteral duplication Cystic renal dysplasia Breathing dysregulation Hypothermia Hyperammonemia Heart block Enlarged kidney Hyperkalemia Cerebral hemorrhage Thickened helices Hypoplastic toenails Polycystic kidney dysplasia Ventricular arrhythmia Abnormal pattern of respiration Pes valgus Abnormality of the foot Arnold-Chiari malformation Cerebral calcification Frontal upsweep of hair Intervertebral space narrowing Narrow vertebral interpedicular distance Sclerotic vertebral endplates Shoulder dislocation Multiple joint dislocation Knee dislocation Decreased hip abduction Abnormality of the carpal bones Spinal deformities Ulnar bowing Tricuspid stenosis Flattened epiphysis Hypoplasia of the capital femoral epiphysis Coronal cleft vertebrae Irregular epiphyses Enlarged joints Disproportionate short-trunk short stature Mitral stenosis Short 4th metacarpal High anterior hairline Barrel-shaped chest Anisospondyly Intervertebral disc degeneration Thoracic kyphosis Scarring Congenital diaphragmatic hernia Eczema Round face Short foot Wide nose Short palm Joint hyperflexibility Toe syndactyly Finger syndactyly Blepharophimosis Generalized bone demineralization Umbilical hernia Inguinal hernia Obesity Midface retrusion Malar flattening Behavioral abnormality Fixed elbow flexion Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Abnormality of the elbow Irregular vertebral endplates Broad-based gait Kyphosis Waddling gait Short distal phalanx of finger Talipes Genu valgum Hip dislocation Camptodactyly of finger Arthritis Arthralgia Delayed skeletal maturation Wide nasal ridge Limb undergrowth Sparse lateral eyebrow Thickened nuchal skin fold Inverted nipples Long palpebral fissure Oligodontia Sacral dimple Hip dysplasia Postaxial polydactyly Poor speech Polydactyly Microdontia Pulmonary arterial hypertension Short humerus Hypoplasia of the ulna Arthropathy Thin ribs Vertebral fusion Tibial bowing Limited elbow extension Short thorax Short femoral neck Hallux valgus Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Mitral regurgitation Tricuspid regurgitation Heart murmur Sparse eyebrow Elbow dislocation Delayed gross motor development Aortic regurgitation Joint dislocation Rhizomelia Bowing of the long bones Abnormal form of the vertebral bodies Sparse scalp hair Stereotypy Abnormality of the skin Synovitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Multiple lentigines Schwannoma Restrictive cardiomyopathy Juvenile myelomonocytic leukemia Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Panuveitis Loose anagen hair Neurofibromas Cleft lip Intestinal malrotation Bifid uvula Flat face Cleft upper lip Arachnodactyly Anal atresia Ophthalmoplegia Paralysis Facial palsy Retrognathia Pectus excavatum of inferior sternum Hypothyroidism Syndactyly Abnormality of the dentition Myopathy Cleft palate Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Cystic hygroma Abnormality of color vision Short phalanx of finger Broad columella Rod-cone dystrophy Thrombocytopenia Splenomegaly Vomiting Edema Fever Self-biting Pain insensitivity Abnormal aortic morphology Subvalvular aortic stenosis Abdominal pain Broad face Renal neoplasm Low hanging columella Overweight Mild short stature Obsessive-compulsive behavior Laryngomalacia Narrow palpebral fissure Short chin Short toe Hypogonadism Proptosis Leukocytosis Lymphedema Abnormality of the coagulation cascade Radial deviation of finger Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Azoospermia Plagiocephaly Left ventricular hypertrophy Hypertrophic cardiomyopathy Clumsiness Primary amenorrhea Amenorrhea Abnormal bleeding Triangular face Bruising susceptibility Facial asymmetry Hypotrichosis Leukemia Low-set, posteriorly rotated ears Increased serum pyruvate



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