Cleft palate, and Split hand

Diseases related with Cleft palate and Split hand

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


Top matches:

Medium 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

Medium 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

Medium match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

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Other less relevant matches:

Medium match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


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 HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Medium match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Medium 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

Medium 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

Medium match PHOCOMELIA, SCHINZEL TYPE


Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

Medium match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Top 5 symptoms//phenotypes associated to Cleft palate and Split hand

Symptoms // Phenotype % cases
Toe syndactyly Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Cleft upper lip Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Split hand. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ectrodactyly

Uncommon Symptoms - Between 30% and 50% cases


Oral cleft

Common Symptoms - More than 50% cases


Choanal atresia

Uncommon Symptoms - Between 30% and 50% cases


Micropenis Ectodermal dysplasia Intellectual disability Hypodontia Polydactyly Low-set ears Microtia Posteriorly rotated ears Hypohidrosis Micrognathia Hypoplastic nipples Hypospadias Finger syndactyly Ambiguous genitalia Hearing impairment Hypoplasia of the maxilla Short stature Microdontia Central diabetes insipidus Renal dysplasia Sparse eyelashes Talipes equinovarus Blepharitis Short nose Selective tooth agenesis Encephalocele Growth delay Specific learning disability High palate Feeding difficulties Flexion contracture Telecanthus Split foot Fibrous syngnathia Renal agenesis Intrauterine growth retardation Wide nasal bridge Ankyloblepharon Bifid uvula Non-midline cleft lip Nail dysplasia Epicanthus Hyperkeratosis Hypertelorism Microcephaly Conductive hearing impairment Blepharophimosis Anal atresia Scrotal hypoplasia Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Photophobia Absent septum pellucidum Short philtrum Semilobar holoprosencephaly Recurrent respiratory infections Malar flattening Heat intolerance Anonychia Conjunctivitis Fine hair Small nail Alopecia Nail dystrophy Sparse hair Failure to thrive Carious teeth Scoliosis Pulmonary hypoplasia Renal hypoplasia/aplasia Abnormality of the nasopharynx Nail pits Ureterocele Dacryocystitis Urethral atresia Transverse vaginal septum Absence of Stensen duct Hypoplastic toenails Bladder diverticulum Abnormal facial shape Skeletal dysplasia Talipes Micromelia High, narrow palate Renal cyst Bowing of the long bones Duplicated collecting system Hypoplasia of the thymus Vesicoureteral reflux Hydroureter Growth hormone deficiency Oligohydramnios Sparse scalp hair Sparse and thin eyebrow Hypogonadotrophic hypogonadism Hand polydactyly Keratitis Xerostomia Sparse pubic hair Depressed nasal tip Blue irides Fair hair Generalized hypopigmentation Sparse axillary hair Dysuria Rectovaginal fistula Cutaneous syndactyly Hydronephrosis Hand oligodactyly Abnormality of the nail Hypogonadism Hip dislocation Oligodactyly Retrognathia Bifid scrotum Global developmental delay Generalized hirsutism Lacrimal duct atresia Lip pit Abnormality of the ribs Foot oligodactyly Joint stiffness Microphthalmia Otitis media Abnormality of the genital system Thin upper lip vermilion Agenesis of corpus callosum Camptodactyly Hypoplastic labia majora Protruding ear Wide nose Popliteal pterygium Hemivertebrae Nonketotic hyperglycinemia Postaxial hand polydactyly Downslanted palpebral fissures Elbow ankylosis Femoral bowing Disproportionate short stature Meningocele Broad clavicles Broad neck Aplasia/Hypoplasia involving the metacarpal bones Radial bowing Abnormality of tibia morphology Hypoplastic pelvis Tracheoesophageal fistula Barrel-shaped chest Aplasia of the ulna Broad ribs Single umbilical artery Long ear Prominent sternum Calvarial skull defect Humeroradial synostosis Phocomelia Fibular aplasia Aplasia of the uterus Intellectual disability, profound Unilateral renal agenesis Generalized microdontia Lacrimation abnormality Entropion Slow-growing hair Aplasia/Hypoplasia of the nipples Inflammatory abnormality of the eye Urethral stenosis Thin nail Abnormality of the middle ear Megacystis Aplasia/Hypoplasia of the breasts Abnormality of the inner ear Mesoaxial polydactyly Periorbital hyperpigmentation Abnormality of the skeletal system Patent foramen ovale Short neck Hernia Macrotia Pectus carinatum Long face Short foot Hypoplasia of penis Decreased calvarial ossification Congenital diaphragmatic hernia Hydrops fetalis Elbow flexion contracture Narrow palate Hypoplasia of the radius Aplasia/hypoplasia of the femur Occipital meningocele Congenital pseudoarthrosis of the clavicle Occipital encephalocele Abnormality of the tongue Short tibia Median cleft lip Foot polydactyly Primary adrenal insufficiency Submucous cleft hard palate Hamartoma Subcortical cerebral atrophy Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Preaxial hand polydactyly Genu varum Laryngomalacia Porencephalic cyst Abnormal oral mucosa morphology Joint dislocation Absent testis Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Cerebral cortical hemiatrophy Accessory oral frenulum Perineal fistula Aplasia/Hypoplasia of the tibia Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Abnormality of the outer ear Short ribs Hypoplastic sacrum Aplasia/Hypoplasia involving the pelvis Aplasia/Hypoplasia of the tarsal bones Aplasia/Hypoplasia involving the carpal bones Anteriorly displaced genitalia Aplastic pubic bones Aplasia/Hypoplasia of the pubic bone Pilonidal sinus Aplasia/Hypoplasia of the sacrum Lower limb phocomelia Rectal fistula Acrania Aplasia/Hypoplasia of metatarsal bones Aplasia/Hypoplasia of the phalanges of the toes Carpal bone aplasia Corneal erosion Aplasia/Hypoplasia of the phalanges of the hand Humeroulnar synostosis Colonic stenosis Hepatic fibrosis Camptodactyly of finger Depressed nasal ridge Interphalangeal joint contracture of finger Limb undergrowth Decreased testicular size Postaxial polydactyly Abnormality of eye movement Abnormality of the kidney Brachydactyly Proptosis Cerebral cortical atrophy Severe short stature Clinodactyly Pectus excavatum Abnormality of cardiovascular system morphology Cerebral atrophy Anterior hypopituitarism Hypoplasia of dental enamel Taurodontia Anhidrosis Inflammatory abnormality of the skin Recurrent otitis media Hyperpigmentation of the skin Sinusitis Hoarse voice Increased body weight Short femur Postaxial foot polydactyly Widely spaced teeth Atresia of the external auditory canal Brittle hair Erythroderma Hammertoe 2-3 toe syndactyly Fibular hypoplasia Flared nostrils Supernumerary nipple Agenesis of permanent teeth Sparse body hair Keratoconjunctivitis sicca Pustule Absent eyelashes Chronic sinusitis Trismus Tibial bowing Pili torti Conical tooth Anophthalmia Skin erosion Plantar hyperkeratosis Abnormal renal morphology Sepsis Hyperconvex nail Hypoplasia of the frontal bone Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Poor head control Hypoplasia of the brainstem Diabetes insipidus Abnormality of digit Severe global developmental delay Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Craniosynostosis Long hallux Hypernatremia Duplication of thumb phalanx Lobar holoprosencephaly Palmoplantar keratoderma Narrow mouth Hypotrichosis Metacarpal synostosis Camptodactyly of 2nd-5th fingers Scarring Fused fourth and fifth metacarpals Abnormality of the nervous system Ptosis Low-set, posteriorly rotated ears Respiratory insufficiency Patent ductus arteriosus Abnormality of the dentition Ventricular septal defect Pain Neonatal hypotonia Orthokeratosis Oval face External ear malformation Abnormal salivary gland morphology Cerebral palsy Anodontia Falls Neurological speech impairment Difficulty walking Respiratory distress Recurrent corneal erosions Gonadal dysgenesis Nasolacrimal duct obstruction Hallux valgus Hypergonadotropic hypogonadism Joint contracture of the hand Primary amenorrhea Amenorrhea Slow-growing scalp hair Bilateral cleft lip Sensorineural hearing impairment Dilatation Dry skin Thick eyebrow Nevus Lymphoma Recurrent urinary tract infections Hypotelorism Abnormality of dental enamel Coarse hair Reduced number of teeth Proximal placement of thumb Aplasia/Hypoplasia of the skin Aplasia/Hypoplasia of the thumb Pterygium Ankyloglossia Patchy alopecia Abnormality of the foot Bilateral choanal atresia 3-4 toe syndactyly Vaginal dryness Otitis externa Fever Deep philtrum Immunodeficiency Recurrent infections Inguinal hernia Sandal gap Horseshoe kidney Abnormality of the hair Small for gestational age Abnormal vertebral morphology Short palpebral fissure Hypopituitarism Oligodontia Lower lip pit Epiphora Intercrural pterygium Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Frontal bossing Abnormality of the cardiovascular system Prominent forehead Omphalocele Thin skin Postnatal growth retardation Single transverse palmar crease Broad nasal tip Absent crus of helix



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