Intellectual disability, severe, and Finger syndactyly

Diseases related with Intellectual disability, severe and Finger syndactyly

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Finger syndactyly that can help you solving undiagnosed cases.

Top matches:

Medium match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Medium match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Other less relevant matches:

Medium match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Medium match CRI-DU-CHAT SYNDROME

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Medium match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Finger syndactyly

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Finger syndactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Syndactyly

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Global developmental delay Short philtrum Seizures Muscular hypotonia Downslanted palpebral fissures Intellectual disability, moderate Clinodactyly of the 5th finger Ventricular septal defect Frontal bossing Low-set ears Broad forehead Aganglionic megacolon Coloboma Hydronephrosis Abnormal heart morphology Microphthalmia Optic atrophy Scoliosis Thin vermilion border Camptodactyly of finger Atrial septal defect Intrauterine growth retardation Low-set, posteriorly rotated ears Hypospadias Cleft upper lip Preauricular skin tag Toe syndactyly Micrognathia Brachydactyly Sensorineural hearing impairment Supernumerary nipple Hernia Prominent forehead Cataract Strabismus Ptosis Postnatal growth retardation Abnormality of the pinna Hypoplasia of the corpus callosum Short nose Long philtrum Cutaneous syndactyly Nystagmus Dilatation Pyloric stenosis High forehead Pectus excavatum Bilateral single transverse palmar creases Delayed eruption of teeth Neurological speech impairment Iris coloboma Single transverse palmar crease Aplasia/Hypoplasia of the corpus callosum Open mouth Finger clinodactyly Horseshoe kidney Smooth philtrum Abnormality of the dentition Premature graying of hair Abnormality of the skeletal system Inguinal hernia Short neck Cutaneous finger syndactyly External ear malformation Talipes equinovarus Joint contracture of the hand Severe global developmental delay Small hand Abnormality of the kidney Prominent nasal bridge Joint hyperflexibility Microretrognathia

Rare Symptoms - Less than 30% cases

Cat cry Abnormality of bone mineral density High pitched voice Small for gestational age Respiratory distress Hypothyroidism Hirsutism Thin upper lip vermilion Vomiting Oral cleft Mandibular prognathia Polydactyly Postaxial hand polydactyly Telecanthus Brain atrophy Delayed skeletal maturation Posteriorly rotated ears Hypertonia Wide intermamillary distance Fine hair Narrow chest Recurrent fractures Abnormal eyebrow morphology Abnormal cardiac septum morphology Abnormality of digit Anal atresia Motor delay Echolalia Broad columella Widely spaced teeth Round face Esotropia Retrognathia Glaucoma Postnatal microcephaly Autism Tapered finger Cleft lip Aggressive behavior Camptodactyly Bifid uvula Postaxial foot polydactyly Anteverted ears Visual impairment Self-mutilation Abnormality of dental morphology Hip dislocation Wide mouth Large earlobe Muscular hypotonia of the trunk Hypopigmented skin patches Ventriculomegaly Micropenis Anxiety Bulbous nose Blue irides Heterochromia iridis White hair Delayed speech and language development Cognitive impairment White forelock Ectopic kidney Narrow naris Diastasis recti Misalignment of teeth Thick eyebrow Spasticity Synophrys Blepharophimosis Recurrent otitis media Umbilical hernia Patent ductus arteriosus Poor suck Abnormality of the gastrointestinal tract Vesicoureteral reflux Agenesis of corpus callosum Rectal prolapse Diarrhea Underdeveloped nasal alae Paraplegia Hyperactivity Wide anterior fontanel Depressed nasal bridge Hypopigmentation of the skin Webbed neck Abdominal distention Everted lower lip vermilion Low hanging columella Macrotia Sloping forehead Deeply set eye Pectus carinatum Abnormality of the genital system Abnormality of the cerebral white matter Pulmonic stenosis Otitis media Focal-onset seizure Febrile seizures Tetralogy of Fallot Dehydration Sparse scalp hair Coarctation of aorta Falls Stereotypy Cerebral cortical atrophy Postural instability Short metatarsal Narrow face Aspiration Hallucinations Absence seizures Thick lower lip vermilion Short metacarpal Dental malocclusion Downturned corners of mouth Tracheoesophageal fistula Long face Facial asymmetry Feeding difficulties in infancy Neonatal hypotonia Difficulty walking Pes planus Gastroesophageal reflux Myopia Prominent supraorbital ridges Metatarsus adductus Constipation Oppositional defiant disorder Depressivity Absent speech Behavioral abnormality Fever Pain Recurrent infections in infancy and early childhood Overfriendliness High axial triradius Anterior open-bite malocclusion Esophageal atresia Conspicuously happy disposition High-pitched cry Hyperacusis Functional respiratory abnormality Auditory hallucinations Facial grimacing Short attention span Stenosis of the external auditory canal Delusions Pointed chin Microtia Drooling Spina bifida occulta Palpebral edema Increased number of teeth Pericardial effusion Pleural effusion Hypoalbuminemia Reduced number of teeth Oligodontia Abnormal intestine morphology Narrow palate Polysplenia Hypocalcemia Lymphopenia Hydrops fetalis Lymphedema Gingival overgrowth Pachygyria Decreased antibody level in blood Ascites Short foot Coronal craniosynostosis Edema of the lower limbs Flat face Intestinal lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Abnormal oral mucosa morphology Hypoplastic iliac wing Primary hypothyroidism Chylothorax Periorbital edema Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Arteriovenous malformation Short palm Lymphadenopathy Abnormality of the genitourinary system Tracheal stenosis Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad hallux phalanx Bruxism Chronic constipation Generalized muscle hypertrophy Pulmonary artery stenosis Drowsiness Submucous cleft hard palate Hallux valgus Rocker bottom foot Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Uplifted earlobe Abnormal eye morphology Abnormality of the foot Midface retrusion Malabsorption Ciliary body coloboma Craniosynostosis Respiratory tract infection Conductive hearing impairment Hepatosplenomegaly Polyhydramnios Narrow mouth Recurrent respiratory infections Malar flattening Abnormal morphology of the hippocampus Splenomegaly Intellectual disability, mild Congestive heart failure Edema Respiratory insufficiency Hepatomegaly Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Feeding difficulties Bowing of the long bones Agenesis of maxillary lateral incisor Short middle phalanx of finger High anterior hairline Narrow nose Limb hypertonia Limb dystonia Narrow nasal bridge Aphasia Dysphasia Mutism Congenital microcephaly Short chin Generalized hirsutism Long eyelashes Decreased body weight Hypertrichosis Small nail Ambiguous genitalia Cutaneous syndactyly of toes Aplastic/hypoplastic toenail Specific learning disability Postaxial polydactyly Diabetes insipidus Preaxial hand polydactyly Preaxial polydactyly Spontaneous abortion Omphalocele Dandy-Walker malformation Retinal dystrophy Apnea Clinodactyly of the 5th toe Cerebellar hypoplasia Cerebral atrophy Macrocephaly Hypertension Ataxia 2-4 toe syndactyly Frontal hirsutism Enlarged epiphyses Microdontia Limitation of joint mobility Molar tooth sign on MRI Albinism Dacryocystitis Partial albinism Bronchomalacia Atelectasis Carpal synostosis Vitiligo Sprengel anomaly Congenital sensorineural hearing impairment Protruding ear Scapular winging Anorexia Thick vermilion border Abnormality of skin pigmentation Arthrogryposis multiplex congenita Spastic paraplegia Flexion contracture Abnormality of the voice Poliosis Dolichocephaly Hypodontia Leukocoria Wide nose Sparse hair Proptosis Brachycephaly Severe short stature Dystonia Cerebellar atrophy Retinoblastoma Hypotelorism Thickened helices Aplasia/Hypoplasia of the thumb Absent septum pellucidum Trigonocephaly Patent foramen ovale Deep philtrum Abnormal dermatoglyphics Holoprosencephaly Prominent occiput External genital hypoplasia Abnormal palmar dermatoglyphics High, narrow palate Renal hypoplasia/aplasia Bicuspid aortic valve Muscle stiffness Dental crowding Renal hypoplasia Lumbar hyperlordosis Microcornea Pulmonary hypoplasia Chorioretinal coloboma Autistic behavior Hyperlordosis Kyphoscoliosis Kyphosis Blindness True anophthalmia Camptodactyly of 2nd-5th fingers Lacrimal gland hypoplasia Self-injurious behavior Overfolded helix Synostosis of joints Down-sloping shoulders Complete duplication of thumb phalanx Long thorax Abnormality of the shoulder Ankyloblepharon Shield chest Optic nerve coloboma Sclerocornea Abnormality of the clavicle Clubbing Short clavicles Agenesis of permanent teeth Hydroureter Spastic diplegia Bilateral cryptorchidism Radial deviation of finger Anophthalmia Proximal placement of thumb Hypoplasia of the premaxilla White eyebrow Partial agenesis of the corpus callosum Duplication of phalanx of hallux Hypoplasia of the maxilla Hypogonadism Hydrocephalus Pulmonary valve defects Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Cerebral hypoplasia Broad thumb Abnormal pulmonary valve morphology Triangular mouth Hypopigmentation of the fundus Hypoplasia of teeth Rectovaginal fistula Preaxial foot polydactyly Arachnoid cyst Anencephaly Abnormal form of the vertebral bodies Sandal gap Foot oligodactyly Abnormality of the upper limb White eyelashes Macrodontia Arrhinencephaly Hand oligodactyly Intestinal pseudo-obstruction Venous insufficiency Abnormality of the thumb Abnormality of the lower limb Abnormality of the metacarpal bones Short tibia Synostosis of carpal bones Fibular hypoplasia Tarsal synostosis Tibial bowing Elbow dislocation Short long bone Anosmia Pleural lymphangiectasia


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