Arthritis, and Holoprosencephaly

Diseases related with Arthritis and Holoprosencephaly

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


Top matches:

Low match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE


X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

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Other less relevant matches:

Low match HOLOPROSENCEPHALY 4; HPE4


A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Related symptoms:

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 4; HPE4

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Oral cleft
  • Iris coloboma
  • Holoprosencephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5

Low match HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Low match HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS


HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Low match MICROTIA


Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal.

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Microtia
  • Small for gestational age
  • Holoprosencephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROTIA

Low match LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME


Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.

LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME Is also known as morse-rawnsley-sargent syndrome

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Short neck


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Holoprosencephaly

Symptoms // Phenotype % cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Holoprosencephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short neck Adducted thumb Coarse facial features Joint stiffness Global developmental delay Spasticity

Rare Symptoms - Less than 30% cases


Hearing impairment Generalized hypotonia Abnormal facial shape Cleft palate Aqueductal stenosis Cognitive impairment Absent septum pellucidum Delayed speech and language development Hemiplegia/hemiparesis Flexion contracture of thumb Ventricular septal defect Hydranencephaly Spastic paraplegia Agenesis of corpus callosum Obesity Ventriculomegaly Strabismus Nystagmus Retrognathia Blepharophimosis Hypotelorism Hypertonia Macrocephaly Hyperreflexia Flexion contracture Sacral meningocele Increased intracranial pressure Meningocele Maternal diabetes Patent ductus arteriosus Spina bifida Anal atresia Hyporeflexia Intellectual disability, moderate Unilateral primary pulmonary dysgenesis Enlarged thorax Abnormality of the pleura Fetal akinesia sequence Downslanted palpebral fissures Intellectual disability, mild Aplasia/Hypoplasia of the lungs Tapered finger Long face Right aortic arch with mirror image branching Intellectual disability, profound Pointed chin Knee flexion contracture Abnormality of the fingernails Delayed gross motor development Limited elbow extension Long fingers Ankle contracture Multiple joint contractures Macroorchidism Female infertility Unilateral lung agenesis Perineal fistula Congenital conductive hearing impairment Mood swings Truncus arteriosus Myelomeningocele Echolalia Abnormality of the endocrine system Pulmonary artery atresia Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Right aortic arch Ptosis Impaired T cell function Duodenal stenosis Paranoia Retinal vascular tortuosity Giant platelets Velopharyngeal insufficiency Conotruncal defect Psychotic episodes Aplasia of the thymus Arteria lusoria Central nervous system degeneration Vascular ring Absent nares Aplasia/Hypoplasia of the cerebellum Depressed nasal bridge Iris coloboma Microtia Esodeviation Oxycephaly Corticospinal tract hypoplasia Visceromegaly Bilateral cryptorchidism Small hand Noncommunicating hydrocephalus Microphthalmia Coloboma Oral cleft Abnormality of vision Small for gestational age Micropenis Chorioretinal coloboma Anophthalmia Bilateral microphthalmos Cerebellar hypoplasia Polyhydramnios Brain atrophy Dandy-Walker malformation Preeclampsia Babinski sign Severe hydrocephalus Hypertelorism Clear cell renal cell carcinoma Anotia Median cleft lip Abnormal pyramidal sign Cryptorchidism Depressed nasal tip Median cleft lip and palate Semilobar holoprosencephaly Absent nasal septal cartilage Renal hypoplasia/aplasia Neoplasm Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Interphalangeal joint contracture of finger Dilatation Carcinoma Decreased fetal movement Micrognathia Paraplegia Paraparesis Spastic paraparesis Sloping forehead Delusions Limitation of joint mobility Camptodactyly of finger Deeply set eye Cerebral cortical atrophy Intrauterine growth retardation Low-set ears Renal cell carcinoma Pierre-Robin sequence Myopathic facies Hearing abnormality Hydromyelia Cyclopia Clubbing of toes Absence of the sacrum Rectal abscess Exstrophy Dermoid cyst Sirenomelia Sacral lipoma Rectal fistula Cloacal exstrophy Hemisacrum Anterior sacral meningocele Presacral teratoma Short stature Lower limb undergrowth Scoliosis Muscular hypotonia Cataract Anemia High palate Fever Hypoplasia of the corpus callosum Atrial septal defect Cerebellar atrophy Behavioral abnormality Immunodeficiency Recurrent infections Abnormality of cardiovascular system morphology Absent speech Mottled pigmentation Spinal deformities Hernia Back pain Constipation Diabetes mellitus Arthralgia Talipes Urinary incontinence Eczema Osteoarthritis Omphalocele Large fontanelles Situs inversus totalis Meningitis Type I diabetes mellitus Spina bifida occulta Abnormality of the genitourinary system Tracheoesophageal fistula Bladder exstrophy Hyperostosis Transposition of the great arteries Joint swelling Syringomyelia Lipoma Abnormality of the skull Chronic constipation Abnormality of tibia morphology Abnormal cortical bone morphology Neurogenic bladder Abnormality of the knee Urinary retention Deviation of finger Teratoma Thrombocytopenia Hypospadias Hypoparathyroidism Obsessive-compulsive behavior Multicystic kidney dysplasia Narrow palpebral fissure Purpura Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Abnormality of the hand Nasal speech Cholelithiasis Dysdiadochokinesis Rheumatoid arthritis Psoriasiform dermatitis Apathy Unilateral renal agenesis Hallucinations Acne Hypoplasia of the brainstem Inflammation of the large intestine Headache Abnormality of the ear Basal ganglia calcification Autoimmune hemolytic anemia Axonal loss Submucous cleft hard palate Autoimmune thrombocytopenia Anal stenosis Posterior embryotoxon Bipolar affective disorder Vitiligo Hypocalcemia Renal dysplasia Depressivity Pulmonic stenosis Abnormal heart morphology Inguinal hernia Dementia Posteriorly rotated ears Hyperactivity Hypothyroidism Umbilical hernia Conductive hearing impairment Anxiety Aggressive behavior Mental deterioration Abnormality of the pinna Autoimmunity Congenital cataract Dysmetria Open mouth Bulbous nose Hemolytic anemia Bifid uvula Chorea Vesicoureteral reflux Underdeveloped nasal alae Renal agenesis Specific learning disability Amenorrhea Peripheral demyelination Tetralogy of Fallot Psychosis Low posterior hairline Primary amenorrhea Abnormality of the diencephalon



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