Cleft palate, and Toe syndactyly

Diseases related with Cleft palate and Toe syndactyly

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


Top matches:

Low match MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3


Related symptoms:

  • Cleft palate
  • Flexion contracture
  • Syndactyly
  • Proptosis
  • Craniosynostosis


SOURCES: MESH OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3

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 AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

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Other less relevant matches:

Low match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Low match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Low match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Low match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Low match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

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

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
2-3 toe syndactyly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Micrognathia Bifid uvula Flexion contracture Hypertelorism Scrotal hypoplasia Hearing impairment

Rare Symptoms - Less than 30% cases


Broad hallux Proptosis Craniosynostosis Ankyloblepharon Popliteal pterygium Split foot Fibrous syngnathia Short philtrum Coloboma Feeding difficulties Microcephaly Generalized hypotonia Abnormal palate morphology Choanal atresia Split hand Cataract Hypoplastic labia majora Hypoplasia of the maxilla Short nose Strabismus Malar flattening Hallux varus Abnormality of the skeletal system Mandibular prognathia Ventricular septal defect Cleft lip Cleft upper lip Short stature Myopia Bifid scrotum Absent speech Failure to thrive Median cleft palate Depressed nasal bridge Lower eyelid coloboma Bilateral choanal atresia Unilateral cleft lip Ptosis Secundum atrial septal defect Obstructive sleep apnea Hypomimic face Eyelid coloboma Bilateral choanal atresia/stenosis Hypotelorism External ear malformation Thin vermilion border Conductive hearing impairment Abnormality of the eye Feeding difficulties in infancy Protruding ear Blepharophimosis Abnormal cardiac septum morphology Prominent nasal bridge Anal atresia Prominent nose Mixed hearing impairment Underdeveloped nasal alae Renal hypoplasia Short palpebral fissure Hydrocephalus Renal dysplasia Preauricular skin tag Narrow palpebral fissure Abnormality of vision Frontal bossing Underdeveloped supraorbital ridges Headache Ectrodactyly Nail dysplasia Amenorrhea Primary amenorrhea Hypohidrosis Joint contracture of the hand Hypergonadotropic hypogonadism Hallux valgus Gonadal dysgenesis Hypoplastic nipples Lacrimal duct atresia Hypodontia High palate Motor delay Coxa valga Intrauterine growth retardation Hypospadias Micropenis Rhizomelia Gait ataxia Autism Retrognathia Ectodermal dysplasia Camptodactyly Midface retrusion Preaxial foot polydactyly Abnormality of the pinna Genu valgum Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Short metatarsal Astigmatism Shallow orbits Turricephaly Inguinal hernia Hypogonadism Scaphocephaly Metaphyseal widening Accelerated skeletal maturation Broad hallux phalanx Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Anterior plagiocephaly Craniofacial dysostosis Broad metatarsal Calcaneonavicular fusion Narrow mouth Camptodactyly of finger Hernia Specific learning disability Lower lip pit Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Scoliosis Thin upper lip vermilion Joint stiffness Finger syndactyly Ambiguous genitalia Hypoplasia of the vagina Abnormality of the ribs Abnormality of the nail Generalized hirsutism Non-midline cleft lip Nonketotic hyperglycinemia Lip pit Ataxia Nystagmus Abnormality of the scrotum Labial hypoplasia Visual impairment Limited interphalangeal movement Dolichocephaly Broad thumb Cutaneous syndactyly Cubitus valgus Cutaneous syndactyly of toes Humeroradial synostosis Metacarpal synostosis Metatarsal synostosis Talipes equinovarus Bilateral cleft lip and palate Dementia Overgrowth Abnormality of the genital system Spina bifida occulta Pterygium Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Spasticity Brachydactyly Abnormality of metabolism/homeostasis Long fingers Microphthalmia Neonatal hypotonia Low-set, posteriorly rotated ears Autistic behavior Small for gestational age Severe global developmental delay Arachnodactyly Interphalangeal joint contracture of finger Central apnea Short neck Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Sensorineural hearing impairment Wide nasal bridge Atrial septal defect Behavioral abnormality Downslanted palpebral fissures Pectus excavatum Rotary nystagmus Clinodactyly Kyphoscoliosis Joint laxity Pectus carinatum Abnormality of movement Chorea Blue sclerae Cerebral visual impairment Ankyloglossia Growth delay Abnormal facial shape Optic atrophy Hypoplasia of the corpus callosum Deeply set eye Muscular hypotonia of the trunk Polymicrogyria Heterotopia Abnormality of neuronal migration Cortical dysplasia Broad femoral neck



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