High palate, and Finger syndactyly

Diseases related with High palate and Finger syndactyly

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

Top matches:

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

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

Other less relevant matches:

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Medium match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Medium match PFEIFFER SYNDROME

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Medium match MOEBIUS SYNDROME

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Medium match CENANI-LENZ SYNDROME

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Finger syndactyly

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Toe syndactyly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Finger syndactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Short nose Proptosis Low-set ears High forehead Scoliosis Broad thumb Anal atresia Micrognathia Epicanthus Syndactyly Ptosis Arnold-Chiari malformation Atresia of the external auditory canal Laryngomalacia Choanal atresia Brachydactyly Downslanted palpebral fissures Limitation of joint mobility Small hand Cryptorchidism Short foot Short hallux Broad hallux phalanx Aqueductal stenosis Hallux varus Short stature Global developmental delay Midface retrusion

Rare Symptoms - Less than 30% cases

Abnormality of the voice Seizures Congenital hip dislocation Respiratory distress Ophthalmoplegia Hydrocephalus Renal hypoplasia Malar flattening Increased intracranial pressure Intestinal malrotation Arthrogryposis multiplex congenita Dental crowding Tracheomalacia Cloverleaf skull Conductive hearing impairment Brachyturricephaly Protruding ear Talipes equinovarus Deeply set eye Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Muscular hypotonia Multicystic kidney dysplasia Strabismus Renal hypoplasia/aplasia Abnormality of the metacarpal bones Tracheal stenosis Ectopic anus Bicoronal synostosis Convex nasal ridge Short thumb Microcephaly Hydronephrosis Wide nasal bridge Aplasia/Hypoplasia of the thumb Short neck Broad phalanx Dilatation Shortening of all middle phalanges of the fingers Abnormality of the dentition Short middle phalanx of toe Midline nasal groove Microdontia Everted lower lip vermilion Cartilaginous trachea Corneal opacity Visual impairment Feeding difficulties in infancy Facial palsy Autism Motor delay Polydactyly Dysphagia Malformed lacrimal duct Skeletal muscle atrophy Long hallux Elbow ankylosis Anterior plagiocephaly Broad hallux Natal tooth Preaxial polydactyly Ankylosis Shallow orbits Coronal craniosynostosis Acanthosis nigricans Choanal stenosis Oxycephaly Humeroradial synostosis Mandibular prognathia Epidermal acanthosis Otitis media Hypoplasia of the maxilla Wide nose Bronchomalacia Hypogonadotrophic hypogonadism Broad forehead Craniofacial dysostosis Craniosynostosis Open mouth Hip dislocation Cranial nerve paralysis Ectropion Abnormality of the genital system Hemivertebrae Narrow palate Abnormality of dental enamel Abnormal dermatoglyphics Hypoplasia of the radius Deep philtrum Systemic lupus erythematosus Radioulnar synostosis Elbow dislocation Hypoplasia of the ulna Abnormality of the ribs Mixed hearing impairment Absent thumb Abnormality of digit Congenital hypothyroidism Oligodactyly Synostosis of carpal bones Absent toenail Absent fingernail Foot oligodactyly Bilateral renal hypoplasia Crossed fused renal ectopia Abnormal form of the vertebral bodies Renal agenesis Reduced number of teeth Nystagmus Mask-like facies Multiple cafe-au-lait spots Aplasia/Hypoplasia of the radius Blepharitis Abnormality of the ulna Breast aplasia Absent hand Abnormality of the sense of smell Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of the tongue Aplasia of the pectoralis major muscle Abnormal facial shape Hypodontia Cataract Frontal bossing Prominent forehead Hypothyroidism Retrognathia Short philtrum Prominent nasal bridge Wide pubic symphysis Congenital cataract Micromelia High, narrow palate Lacrimal duct aplasia Hypospadias Cleft ala nasi Pectus excavatum Abnormality of bone mineral density Cat cry Visual loss Deviation of the thumb Vesicoureteral reflux Amblyopia Horseshoe kidney Stenosis of the external auditory canal Flexion contracture Intellectual disability, mild Kyphoscoliosis Microretrognathia Camptodactyly Hyperlordosis Retinopathy Camptodactyly of finger Abnormality of the foot Facial asymmetry Talipes Abnormality of skin pigmentation Single transverse palmar crease Triangular face High pitched voice Preauricular skin tag Webbed neck Tarsal synostosis Brachycephaly Short palm Failure to thrive Ventricular septal defect Atrial septal defect Patent ductus arteriosus Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Hypoplastic left heart Postaxial foot polydactyly Round face Urogenital sinus anomaly Urethral stricture Hydrometrocolpos Glandular hypospadias Intrauterine growth retardation Intellectual disability, severe Inguinal hernia Severe global developmental delay Joint hyperflexibility Recurrent fractures Bifid uvula Dandy-Walker malformation Cryptophthalmos Myelomeningocele Ambiguous genitalia Hypoplasia of penis Omphalocele Encephalocele Scrotal hypoplasia Anophthalmia Vertebral segmentation defect Anal stenosis External ear malformation Abnormal lung lobation Calvarial skull defect Underdeveloped nasal alae Bifid tongue Abnormal hair pattern Bicornuate uterus Vaginal atresia Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Wide intermamillary distance Dental malocclusion Lumbar hyperlordosis Distal arthrogryposis Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Knee flexion contracture Pterygium Overlapping toe Bilateral talipes equinovarus Decreased muscle mass Cutaneous finger syndactyly Submucous cleft hard palate Thoracolumbar scoliosis Pulmonary hypoplasia Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Blindness Microphthalmia Umbilical hernia Cleft upper lip Oral cleft Synostosis of joints


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