Cleft palate, and Hypopigmentation of the skin

Diseases related with Cleft palate and Hypopigmentation of the skin

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


Top matches:

Low match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Low match WAARDENBURG SYNDROME, TYPE 3; WS3


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

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

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Other less relevant matches:

Low match WAARDENBURG SYNDROME, TYPE 2A; WS2A


Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (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 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (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). Genetic Heterogeneity of Waardenburg Syndrome Type 2Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (OMIM ) has been mapped to chromosome 1p, WS2C (OMIM ) has been mapped to chromosome 8p23, WS2D (OMIM ) is caused by mutation in the SNAI2 gene (OMIM ) on chromosome 8q11, and WS2E (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 2A; WS2A Is also known as waardenburg syndrome without dystopia canthorum|ws2|waardenburg syndrome, type iia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Telecanthus
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2A; WS2A

Low match DUANE RETRACTION SYNDROME


Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome|duane syndrome|durs|drs

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME

Low match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Low match ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1


ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Low match EEC SYNDROME


EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Low match WAARDENBURG SYNDROME, TYPE 1; WS1


Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see {193510}) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Tamayo et al., 2008). Genetic Heterogeneity of All Types of Waardenburg SyndromeWaardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A (OMIM ) for a discussion of genetic heterogeneity of WS type 2, and WS4A (OMIM ) for a discussion of genetic heterogeneity of WS type 4.

WAARDENBURG SYNDROME, TYPE 1; WS1 Is also known as waardenburg syndrome with dystopia canthorum

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Mandibular prognathia


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 1; WS1

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Congenital sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Syndactyly Blepharophimosis Telecanthus Blue irides Prominent nasal bridge Oral cleft Toe syndactyly Hypertelorism Intellectual disability White forelock Heterochromia iridis Premature graying of hair Cleft lip Synophrys Aganglionic megacolon Underdeveloped nasal alae Malar flattening Ectrodactyly Mandibular prognathia Fair hair Hypoplastic nipples Sparse axillary hair Abnormality of skin pigmentation Partial albinism Microdontia Strabismus Hypodontia Sparse scalp hair Hypoplastic iris stroma Split foot Ectodermal dysplasia Short stature Ptosis Dacryocystitis Split hand Midface retrusion Posteriorly rotated ears White eyebrow Hypopigmented skin patches Sprengel anomaly Hypoplasia of the maxilla Generalized hypopigmentation Dry skin Polydactyly Choanal atresia White eyelashes Nail pits Microcephaly Failure to thrive Thick eyebrow Cleft upper lip Cryptorchidism

Rare Symptoms - Less than 30% cases


Keratitis Inflammatory abnormality of the eye Abnormal form of the vertebral bodies Hydroureter Melanocytic nevus Fine hair Oligodontia Central diabetes insipidus Global developmental delay Xerostomia Deeply set eye Selective tooth agenesis Nasolacrimal duct obstruction Duplicated collecting system Hypoplasia of the thymus Abnormality of the nasopharynx Ureterocele External ear malformation Urethral atresia Camptodactyly Transverse vaginal septum Nail dystrophy Conjunctivitis Sparse pubic hair Absence of Stensen duct Depressed nasal tip Micrognathia Dysuria Bladder diverticulum Seizures Blepharitis Finger syndactyly Sparse eyelashes Smooth philtrum Hypogonadotrophic hypogonadism Flexion contracture Vesicoureteral reflux Sparse and thin eyebrow Thick vermilion border Anal atresia Carious teeth Clinodactyly Microtia Abnormality of the skeletal system Generalized hypotonia Wide intermamillary distance Lacrimation abnormality White hair Hydronephrosis Photophobia Micropenis Hyperkeratosis Spina bifida Alopecia Abnormality of cardiovascular system morphology Albinism Ectopic kidney Growth hormone deficiency Nail dysplasia Nevus Conductive hearing impairment Scoliosis Hypohidrosis Renal dysplasia Hydrocephalus Renal agenesis Thin skin Aplasia/Hypoplasia of the thumb Abnormality of the foot Preaxial polydactyly Inguinal hernia Oligohydramnios Recurrent respiratory infections Pulmonary hypoplasia Abnormality of the genitourinary system Abnormality of the urinary system Bilateral cleft lip Hand polydactyly Omphalocele Epiphora Abnormality of the genital system Absent septum pellucidum Anodontia Short philtrum Small for gestational age Hypopituitarism Broad nasal tip Renal hypoplasia/aplasia Heat intolerance Abnormality of the face Generalized microdontia Myelomeningocele Hypopigmentation of the fundus Supernumerary ribs Aplasia of the vagina Supernumerary vertebrae Abnormality of the dentition Clinodactyly of the 5th finger Hyperhidrosis Hypotrichosis Eczema Cutaneous photosensitivity Inflammatory abnormality of the skin Skin ulcer Mesoaxial polydactyly Abnormality of the nail Finger clinodactyly Dermal atrophy Abnormality of dental morphology Freckling Alopecia of scalp Absent nipple Breast hypoplasia Toenail dysplasia Fingernail dysplasia Lacrimal duct stenosis Lacrimal duct atresia Conical incisor Premature loss of permanent teeth Periorbital hyperpigmentation Abnormality of the inner ear Rectovaginal fistula Immunodeficiency Recurrent corneal erosions Semilobar holoprosencephaly Abnormal salivary gland morphology Slow-growing scalp hair Depressed nasal bridge Dilatation Hypospadias Sparse hair Lymphoma Recurrent urinary tract infections Hypoplasia of dental enamel Abnormality of dental enamel Cutaneous syndactyly Coarse hair Aplasia/Hypoplasia of the breasts Reduced number of teeth Proximal placement of thumb Hypoplastic toenails Aplasia/Hypoplasia of the skin Taurodontia Corneal erosion Anterior hypopituitarism Entropion Slow-growing hair Aplasia/Hypoplasia of the nipples Urethral stenosis Thin nail Abnormality of the middle ear Megacystis Recurrent infections Cerebral cortical atrophy Fever Proportionate short stature Craniosynostosis Migraine Dental malocclusion Short metacarpal Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Abnormal palate morphology Arnold-Chiari malformation Abnormality of the metacarpal bones Increased intracranial pressure Laryngomalacia Glomerulonephritis Aplasia/Hypoplasia of the cerebellum Turricephaly Proptosis Nystagmus Facial asymmetry Abnormality of eye movement Short neck Anteverted nares Talipes equinovarus Skeletal muscle atrophy Short uvula Choanal stenosis Membranous nephropathy Bicoronal synostosis Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Cloverleaf skull High forehead Brachycephaly Everted lower lip vermilion Abdominal distention Short nose Abnormality of the eye Abnormality of the hair Tented upper lip vermilion Abnormality of vision Hypopigmentation of hair Meningocele Atrial septal defect Intellectual disability, severe Vomiting Camptodactyly of finger Spastic paraplegia Arthrogryposis multiplex congenita Paraplegia Anorexia Renal insufficiency Poliosis Respiratory insufficiency Frontal bossing Downslanted palpebral fissures Optic atrophy Visual impairment Feeding difficulties Narrow naris Joint contracture of the hand Bronchomalacia Atelectasis Carpal synostosis Vitiligo Cutaneous finger syndactyly Scapular winging Iris coloboma Microcornea Olivopontocerebellar hypoplasia Aortic valve stenosis Polyhydramnios Skeletal dysplasia Aggressive behavior Muscular hypotonia of the trunk Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Ichthyosis Long face Bulbous nose Wide nose Single transverse palmar crease Esotropia Dandy-Walker malformation Narrow forehead Narrow palpebral fissure Agenesis of corpus callosum Epiphyseal stippling Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Long fingers Microretrognathia Broad hallux Overlapping toe 2-3 toe syndactyly Self-injurious behavior Overfolded helix Sacral dimple Hyperactivity Congestive heart failure Webbed neck Triphalangeal thumb Stenosis of the external auditory canal Aniridia Irregular hyperpigmentation Absent radius Preaxial hand polydactyly Chorioretinal coloboma Hypoplasia of the radius Abnormal pupil morphology Plagiocephaly Spina bifida occulta Preauricular skin tag Amblyopia Short palpebral fissure Low posterior hairline Blepharospasm Oculomotor nerve palsy Hypertonia Patchy hypopigmentation of hair Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect High palate Low-set ears Cataract Palpebral fissure narrowing on adduction Optic disc hypoplasia Central heterochromia Impaired ocular abduction Impaired ocular adduction Narrow internal auditory canal Abnormal vertebral segmentation and fusion Anorectal anomaly Adermatoglyphia



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