Cognitive impairment, and Finger syndactyly

Diseases related with Cognitive impairment and Finger syndactyly

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


Top matches:

Low match ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME


Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME Is also known as edss|edss1

Related symptoms:

  • Cognitive impairment
  • Syndactyly
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

Low match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

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Other less relevant matches:

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Low match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

Low match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Low match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Low match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME


Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Low match AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME


AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Finger syndactyly

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Syndactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Finger syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Short stature Long philtrum Abnormality of the dentition Intellectual disability Abnormality of cardiovascular system morphology High forehead Inguinal hernia Umbilical hernia Cleft palate Downslanted palpebral fissures Cutaneous finger syndactyly Hearing impairment Epicanthus Cutaneous syndactyly Frontal bossing

Rare Symptoms - Less than 30% cases


Hernia Popliteal pterygium Trigonocephaly Cataract Brachydactyly Webbed neck Nail dysplasia Pterygium Clinodactyly Hip dislocation Hypogonadism Toe syndactyly Abnormal heart morphology Scrotal hypoplasia Spina bifida occulta Dolichocephaly Overgrowth Hand polydactyly Anosmia Telecanthus Cleft upper lip Polydactyly Short neck Delayed speech and language development Sparse scalp hair Sparse and thin eyebrow Small nail Craniofacial hyperostosis Sparse eyelashes Everted lower lip vermilion Microcephaly Ectodermal dysplasia Palmoplantar keratoderma Oral cleft Hypotrichosis High anterior hairline Broad forehead Micrognathia Camptodactyly of finger Low-set ears Palmar hyperkeratosis Low-set, posteriorly rotated ears Intrauterine growth retardation High palate Limitation of joint mobility Craniosynostosis Alopecia Hyperhidrosis Clinodactyly of the 5th finger Proptosis Midface retrusion Malar flattening Hydrocephalus Hyperkeratosis Pectus excavatum Single transverse palmar crease Scaphocephaly Cutaneous syndactyly of toes Abnormality of muscle fibers Foot polydactyly Metopic synostosis Postaxial foot polydactyly Abnormality of finger Partial agenesis of the corpus callosum Broad hallux phalanx Preaxial foot polydactyly Medulloblastoma Abnormality of digit Agenesis of corpus callosum Delayed cranial suture closure Prominent forehead Shawl scrotum Megalocornea External ear malformation Broad foot Genu recurvatum Abnormality of the cervical spine Abnormal vertebral segmentation and fusion Seizures Global developmental delay Macrocephaly Intellectual disability, mild Hypospadias Abnormality of calvarial morphology Camptodactyly Broad hallux Confusion Hirsutism Postaxial polydactyly Postural instability Postaxial hand polydactyly Congenital diaphragmatic hernia Broad thumb Joint contracture of the hand Accelerated skeletal maturation Plagiocephaly Preaxial polydactyly Hyperglycemia Preaxial hand polydactyly Large for gestational age Camptodactyly of toe Hypoplasia of penis 3-4 finger syndactyly Thin upper lip vermilion Prominent nasal bridge Coloboma Wide mouth Protruding ear Muscular hypotonia of the trunk Hydronephrosis Micropenis Bulbous nose Microphthalmia Short nose Intellectual disability, severe Hypoplasia of the corpus callosum Ventricular septal defect Muscular hypotonia Thin vermilion border Thick eyebrow Growth delay Supernumerary nipple Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Absent septum pellucidum Patent foramen ovale Iris coloboma Deep philtrum Abnormal dermatoglyphics Holoprosencephaly Finger clinodactyly Wide anterior fontanel Open mouth Hypotelorism Abnormal facial shape Generalized hypotonia Duplication of the distal phalanx of hand Abnormality of the foot Hyperextensible skin Nevus Pulmonary hypoplasia Long face Abnormality of movement Facial asymmetry Arthrogryposis multiplex congenita Pointed chin Conductive hearing impairment Gait disturbance Skeletal muscle atrophy Failure to thrive Scoliosis 1-3 toe syndactyly Low posterior hairline Aortic aneurysm Absence of labia majora Abnormal aortic valve morphology Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Multiple pterygia Abnormality of the tongue Rib fusion Neonatal respiratory distress Aplasia/Hypoplasia of the abdominal wall musculature Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Hearing abnormality Aplasia/Hypoplasia of the skin Abnormality of the sternum Vertebral segmentation defect Broad palm Trigeminal neuralgia Round face Ankyloblepharon Flexion contracture Abnormality of the skeletal system Talipes equinovarus Dementia Cleft lip Bifid uvula Abnormality of the genital system Bifid scrotum Hypoplasia of the uterus Bilateral cleft lip Bilateral cleft lip and palate Hypoplastic labia majora Labial hypoplasia Hypoplasia of the vagina Renal cyst Abnormality of the scrotum Lower lip pit Fibrous syngnathia Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Photophobia Sparse hair Nail dystrophy Carious teeth Fine hair Hyperpigmentation of the skin Skin ulcer Conjunctivitis External genital hypoplasia Retinal dystrophy Brittle hair Absent facial hair Epidermal acanthosis Hypoplasia of dental enamel Abnormality of the hair Widely spaced teeth Coarse hair Hypoplastic toenails Absent eyebrow Aplasia/Hypoplasia of the eyebrow Heat intolerance Conical tooth Pili torti Ridged nail Hypoplasia of teeth Patchy alopecia Epidermal hyperkeratosis Retinal degeneration 2-3 toe cutaneous syndactyly Skeletal dysplasia Convex nasal ridge Abnormal form of the vertebral bodies Amniotic constriction ring Recurrent corneal erosions Cloverleaf skull Craniofacial dysostosis Elbow ankylosis Blindness Obesity Rod-cone dystrophy Reduced visual acuity Nyctalopia Palmoplantar hyperkeratosis Scaling skin Hypoplasia of the maxilla 2-3 finger syndactyly Increased intracranial pressure Abnormality of pelvic girdle bone morphology Constriction of peripheral visual field Hyperostosis Abnormal cranial nerve morphology Broad ribs Abnormal cortical bone morphology Abnormality of the nose Fingernail dysplasia Diaphyseal thickening Deviation of finger Esodeviation Broad clavicles Sclerotic vertebral endplates Sclerotic scapulae Tall stature Curved distal phalanges of the hand Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Anteverted nares Congestive heart failure Behavioral abnormality Pes planus Attention deficit hyperactivity disorder Joint hyperflexibility Talipes Short palm Small hand Short foot Delayed eruption of teeth Increased bone mineral density Esotropia Clubbing Hyperconvex nail Generalized hyperpigmentation Irregular hyperpigmentation Blepharitis Fragile nails Fair hair Sparse axillary hair Clubbing of fingers Sparse pubic hair Onycholysis Thick nail Alopecia totalis Slow-growing hair Abnormal nasolacrimal system morphology Hypohidrotic ectodermal dysplasia Clubbing of toes Dental malocclusion Absent axillary hair Hidrotic ectodermal dysplasia Absent pubic hair Abnormality of nail color Nystagmus Sensorineural hearing impairment Depressed nasal bridge Optic atrophy Headache Visual loss Hyperactivity Mandibular prognathia Facial palsy Paralysis Leukocoria



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