Cleft palate, and Ectodermal dysplasia

Diseases related with Cleft palate and Ectodermal dysplasia

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


Top matches:

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

Low match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low 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

Low match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Low 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

Low match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Ectodermal dysplasia

Symptoms // Phenotype % cases
Cleft upper lip Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Hypodontia Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cleft palate and Ectodermal dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Hypohidrosis Oral cleft Sparse hair Pili torti Hearing impairment Conductive hearing impairment Microdontia Sparse and thin eyebrow Hypospadias Sparse eyelashes Protruding ear Micrognathia Growth delay Seizures Hypogonadism Finger syndactyly Ectrodactyly Bilateral cleft lip and palate Abnormality of dental enamel Dystrophic toenail Carious teeth Agenesis of corpus callosum Toe syndactyly Choanal atresia Abnormality of the dentition Alopecia Downslanted palpebral fissures Small nail Hypotrichosis Conical tooth Dystrophic fingernails Split hand Hypertelorism Ptosis Short stature Nail dysplasia Global developmental delay

Rare Symptoms - Less than 30% cases


Pain Hyperlordosis Abnormality of the kidney EEG abnormality Macrotia Recurrent respiratory infections Fine hair Midface retrusion Malar flattening Hypoplasia of the maxilla Bilateral cleft lip Palmoplantar keratoderma Neurological speech impairment Cutaneous syndactyly Hypotelorism Narrow mouth Microphthalmia Ventricular septal defect Semilobar holoprosencephaly Non-midline cleft lip Holoprosencephaly Depressed nasal bridge Recurrent otitis media Nail dystrophy Abnormality of the ear Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Intrauterine growth retardation Hyperconvex nail Sparse lateral eyebrow Ankyloblepharon Anodontia Microcephaly Cutaneous finger syndactyly Abnormality of dental morphology Anhidrosis Supernumerary nipple Brittle hair Palmoplantar hyperkeratosis Scrotal hypoplasia Renal dysplasia Widely spaced teeth Bilateral single transverse palmar creases Wide intermamillary distance Highly arched eyebrow Synophrys Abnormality of the ureter Micropenis High forehead Anteverted nares Atresia of the external auditory canal Depressed nasal ridge Underdeveloped nasal alae Triangular face Microtia Telecanthus Low-set ears Aplasia/Hypoplasia of the eyebrow Abnormal facial shape Failure to thrive Lacrimal duct atresia Hypoplastic nipples Bifid uvula Camptodactyly Ectropion Delayed eruption of teeth Posteriorly rotated ears Hypothyroidism Generalized hyperpigmentation Pulmonary hypoplasia Heat intolerance Selective tooth agenesis Blepharitis Single median maxillary incisor Thin skin Skin erosion Coarse hair Abnormality of the voice Nasal obstruction Panhypopituitarism Submucous cleft hard palate Oval face Absent eyelashes Hypoplastic labia majora Hyposmia Thick nail Dry hair Cystic renal dysplasia Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Plantar hyperkeratosis Abnormality of chromosome segregation Velopharyngeal insufficiency Duodenal atresia Pustule Narrow nose Abnormality of the nasopharynx Clinodactyly of the 5th finger Diabetes insipidus Severe global developmental delay Trismus Wide nose Pyriform aperture stenosis Prominent median palatal raphe Single naris Intellectual disability, profound Encephalocele Torus palatinus Aplasia/Hypoplasia of the corpus callosum Poor head control Hypoplasia of the brainstem Hypothalamic hamartoma Hyperconvex fingernails Abnormality of digit Absent septum pellucidum Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Cyclopia Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Trichodysplasia Absent lacrimal punctum Hammertoe Hyperkeratosis Short philtrum Coloboma Severe short stature Short nose Intellectual disability, mild Patent ductus arteriosus Strabismus Scoliosis Otitis externa Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Abnormality of the nervous system 2-3 toe syndactyly Scarring Sepsis Otitis media Inflammatory abnormality of the skin Hyperpigmentation of the skin Sinusitis Hoarse voice Increased body weight Bilateral choanal atresia Craniosynostosis Patchy alopecia Erythroderma Iris coloboma Asthma Pili canaliculi Progressive alopecia Maternal diabetes Submucous cleft soft palate Small, conical teeth Median cleft lip Hamartoma Narrow nasal bridge Anophthalmia Chronic sinusitis Orthokeratosis Precocious puberty Keratoconjunctivitis sicca Tented upper lip vermilion Anosmia Anonychia Sparse body hair EMG: myopathic abnormalities Hemangioma Hypoplasia of penis Ambiguous genitalia Tetralogy of Fallot Decreased number of sweat glands Specific learning disability Renal agenesis Agenesis of permanent teeth Feeding difficulties Growth hormone deficiency Premature birth Conjunctivitis Proteinuria Low-set, posteriorly rotated ears Neoplasm Inverted nipples Taurodontia Skin tags Absent nipple Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Blindness Aplasia/Hypoplasia of the skin Clinodactyly Upslanted palpebral fissure Abnormality of the eye Anal atresia Flat face Opacification of the corneal stroma Oligodontia Abnormality of vision Reduced number of teeth Overfolded helix Vertebral fusion Abnormal eyelid morphology Myelomeningocele High anterior hairline Shawl scrotum Long nose Distichiasis Thin vermilion border Amenorrhea Primary amenorrhea Joint contracture of the hand Hypergonadotropic hypogonadism Hallux valgus Gonadal dysgenesis Split foot Talipes equinovarus Short neck Mandibular prognathia Rigidity Abnormality of the pinna Wide mouth Dry skin Bulbous nose Cupped ear Hirsutism High, narrow palate Dental malocclusion Abnormality of the skin Hypertrichosis Abnormality of the genital system Abnormality of the face Low anterior hairline Generalized hirsutism Cutis laxa Hyperextensible skin Dermal atrophy Redundant skin Sparse eyebrow Abnormal hair quantity Unilateral cleft lip Neonatal hypotonia Aplasia of the uterus Chronic kidney disease Abnormality of the urinary system Polycystic ovaries Polycystic kidney dysplasia Psoriasiform dermatitis Unilateral renal agenesis Progressive sensorineural hearing impairment Basal ganglia calcification Renal tubular acidosis Hypoparathyroidism Severe postnatal growth retardation Tetany Vaginal atresia Ovarian cyst Hypocalcemic seizures Ischemic stroke Uterus didelphys Distal renal tubular acidosis Proximal renal tubular acidosis Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Bilateral renal dysplasia Unilateral deafness Abnormality of T cell physiology Parathyroid hypoplasia Unilateral renal dysplasia Cryptorchidism Epicanthus Respiratory insufficiency Hyperkinesis Nephrocalcinosis Epidermoid cyst Sensorineural hearing impairment Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Hyperhidrosis Sparse scalp hair Abnormal dermatoglyphics Hypoplasia of the zygomatic bone Pterygium Scaling skin Anteverted ears Nystagmus Muscle weakness Multicystic kidney dysplasia Stroke Hypocalcemia Horizontal nystagmus Nephrotic syndrome Bilateral sensorineural hearing impairment Vesicoureteral reflux Hematuria Hydronephrosis Cardiomyopathy Myalgia Acidosis Diabetes mellitus Rod-cone dystrophy Abnormal heart morphology Renal insufficiency Midnasal stenosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Bulbous nose, related diseases and genetic alterations Peripheral neuropathy and Atrial septal defect, related diseases and genetic alterations Scoliosis and Photophobia, related diseases and genetic alterations Growth delay and Inflammatory abnormality of the skin, related diseases and genetic alterations Global developmental delay and Neurodegeneration, related diseases and genetic alterations Intellectual disability and Pheochromocytoma, related diseases and genetic alterations Immunodeficiency and Ptosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more