High palate, and Toe syndactyly

Diseases related with High palate and Toe syndactyly

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

Top matches:

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

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

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Syndactyly High forehead Cleft palate Global developmental delay Seizures Broad hallux phalanx Proptosis Finger syndactyly Clinodactyly Anal atresia Small hand Microcephaly Hallux varus Aqueductal stenosis Short hallux Broad thumb Short foot Midface retrusion 2-3 toe syndactyly Hearing impairment

Rare Symptoms - Less than 30% cases

Respiratory distress Gait ataxia Increased intracranial pressure Intestinal malrotation Single transverse palmar crease Cleft upper lip Postnatal growth retardation Scrotal hypoplasia Micrognathia Laryngomalacia Cryptorchidism Hypospadias Atresia of the external auditory canal Feeding difficulties Tracheomalacia Anophthalmia Retrognathia Intrauterine growth retardation Growth delay Ventricular septal defect Choanal atresia Arnold-Chiari malformation Motor delay Wide nasal bridge Abnormal facial shape Scaphocephaly Horseshoe kidney Generalized hypotonia Scoliosis Short stature Limitation of joint mobility Microphthalmia Trismus Cold-induced sweating Unexplained fevers Deep philtrum Posteriorly rotated ears Excessive salivation Thoracolumbar scoliosis Hydronephrosis Renal cell carcinoma Limited elbow extension Opisthotonus Radial deviation of finger Cubitus valgus Scaling skin Poor suck Sandal gap Cleft lip Vesicoureteral reflux Frontal bossing Hip dislocation Downslanted palpebral fissures Brachyturricephaly Postaxial hand polydactyly Abnormality of the cardiovascular system Short palpebral fissure Split hand Blepharophimosis Stenosis of the external auditory canal Abnormal vertebral morphology Talipes equinovarus Polydactyly Abnormality of the hair Prominent forehead Hemivertebrae Amblyopia Abnormality of cardiovascular system morphology Tibial bowing Bicornuate uterus Vertebral segmentation defect Anal stenosis External ear malformation Abnormal lung lobation Myelomeningocele Tracheal stenosis Calvarial skull defect Ectopic anus Bifid tongue Abnormal hair pattern Vaginal atresia Dental crowding Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Wide pubic symphysis Lacrimal duct aplasia Midline nasal groove Multicystic kidney dysplasia Encephalocele Oligodactyly Blindness Fibular hypoplasia Postaxial foot polydactyly Short femur Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Elbow flexion contracture Omphalocele Umbilical hernia Conductive hearing impairment Low-set, posteriorly rotated ears Oral cleft Pulmonary hypoplasia Dental malocclusion Underdeveloped nasal alae Wide intermamillary distance Ambiguous genitalia Hypoplasia of penis Renal hypoplasia Abnormal autonomic nervous system physiology Cupped ear Sensorimotor neuropathy Cerebral visual impairment Dysmetria Tapered finger Progressive cerebellar ataxia Chorea Epileptic encephalopathy Generalized-onset seizure Narrow forehead Diplopia Incoordination Dysarthria Cerebellar vermis atrophy Dilated fourth ventricle Failure to thrive Cataract Myopia Micropenis Autism Astigmatism Hypotelorism Encephalopathy Visual impairment Coxa valga Open bite Macrocephaly Ventriculomegaly Intellectual disability, mild Upslanted palpebral fissure Mandibular prognathia Craniosynostosis Dolichocephaly Hypoplasia of the maxilla Trigonocephaly Shallow orbits Delayed speech and language development Craniofacial dysostosis Brachycephaly Short palm Aplasia/Hypoplasia of the thumb Bicoronal synostosis Ataxia Spasticity Ptosis Cognitive impairment Rhizomelia Accelerated skeletal maturation Lumbar hyperlordosis Carcinoma Hypoplasia of the cochlea Muscle weakness Pain Flexion contracture Peripheral neuropathy Anteverted nares Long philtrum Hyperhidrosis Kyphoscoliosis Facial palsy Small face Apnea Camptodactyly Feeding difficulties in infancy Hyperlordosis Protruding ear Carious teeth Abnormality of the foot Full cheeks Round face Premature chromatid separation Optic nerve coloboma Metaphyseal widening Epicanthus Obstructive sleep apnea Broad femoral neck Hydrocephalus Malar flattening Visual loss Cloverleaf skull Deviation of the thumb Strabismus Sensorineural hearing impairment Short neck Chromosome breakage Congestive heart failure Wide mouth Coloboma Smooth philtrum Abnormality of skin pigmentation Tetralogy of Fallot Sloping forehead Bilateral sensorineural hearing impairment Cutis marmorata Malformed lacrimal duct


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