Cleft palate, and Alopecia

Diseases related with Cleft palate and Alopecia

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


Top matches:

Low match KERATODERMA HEREDITARIUM MUTILANS


Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

Low match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

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

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Other less relevant matches:

Low match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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 ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

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 MARIE UNNA HEREDITARY HYPOTRICHOSIS


Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.

MARIE UNNA HEREDITARY HYPOTRICHOSIS Is also known as hypotrichosis, marie unna type|marie unna hereditary hypotrichosis 1|muhh|muhh1|hypotrichosis, marie unna type, 1|marie unna congenital hypotrichosis

Related symptoms:

  • Alopecia
  • Cleft lip
  • Hypotrichosis
  • Oral cleft
  • Hirsutism


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARIE UNNA HEREDITARY HYPOTRICHOSIS

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Top 5 symptoms//phenotypes associated to Cleft palate and Alopecia

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sparse eyelashes Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Hypohidrosis Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypotrichosis Sparse and thin eyebrow Protruding ear Sparse hair Micrognathia Syndactyly Pili torti Hypodontia Ectodermal dysplasia Hyperkeratosis Abnormality of the dentition Cleft upper lip Oral cleft Intellectual disability Conductive hearing impairment Hypoplasia of the maxilla Ptosis Camptodactyly Microcephaly Narrow mouth Palmoplantar keratoderma Ectrodactyly Short stature

Rare Symptoms - Less than 30% cases


Joint contracture of the hand Supernumerary nipple Nail dystrophy Finger syndactyly Cryptorchidism Lacrimal duct atresia Hyperlordosis Global developmental delay Hyperhidrosis Coarse hair Seizures Scoliosis Renal dysplasia Recurrent otitis media Toe syndactyly Depressed nasal bridge Fine hair Small nail Hypospadias Ventricular septal defect Conical tooth Ankyloblepharon Hyperconvex nail Trichodysplasia Talipes equinovarus Sparse body hair Triangular face Dystrophic fingernails Dystrophic toenail Aplasia/Hypoplasia of the eyebrow Brittle hair Abnormality of dental enamel Bilateral single transverse palmar creases Split hand Sparse scalp hair Wide intermamillary distance Microdontia Widely spaced teeth Nail dysplasia Sensorineural hearing impairment Low-set ears Sparse eyebrow Facial asymmetry Bifid uvula Hypogonadism Plantar hyperkeratosis Palmoplantar hyperkeratosis Abnormal toenail morphology Ichthyosis Trismus Adducted thumb Choanal atresia Sinusitis Hyperpigmentation of the skin Microtia Inflammatory abnormality of the skin Otitis media Sepsis Scarring Abnormality of the nervous system Hoarse voice Hammertoe Increased body weight Conjunctivitis Atresia of the external auditory canal Erythroderma 2-3 toe syndactyly Anhidrosis Keratoglobus Anonychia Agenesis of permanent teeth Decreased palmar creases Ulnar deviation of the wrist Keratoconjunctivitis sicca Pustule Blepharitis Micropenis Decreased number of sweat glands Patent ductus arteriosus Cystic renal dysplasia Exophoria Firm muscles Non-midline cleft lip Submucous cleft hard palate Generalized hyperpigmentation Narrow nose Hypoplastic labia majora Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Thick nail Dry hair Anhidrotic ectodermal dysplasia Feeding difficulties Hypohidrotic ectodermal dysplasia Congenital finger flexion contractures Velopharyngeal insufficiency Round ear Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Submucous cleft soft palate Small, conical teeth Progressive alopecia Unilateral ptosis Failure to thrive Pain Duane anomaly Heat intolerance Absent eyelashes Arthrogryposis multiplex congenita Macular dystrophy Epicanthus Decreased muscle mass Short neck Congestive heart failure Pectus excavatum Clinodactyly Areflexia Bilateral talipes equinovarus Deeply set eye Joint stiffness Blepharophimosis Retinopathy Ophthalmoplegia Flexion contracture Hypermetropia Abnormality of eye movement Abnormality of the foot Astigmatism Arachnodactyly Mask-like facies Abnormality of skin pigmentation Congenital contracture Bilateral ptosis Webbed neck Lumbar hyperlordosis Abnormal lung morphology Abnormality of retinal pigmentation Narrow face High palate Restrictive ventilatory defect Retinal fold Hypoventilation Chronic sinusitis Abnormal electroretinogram Selective tooth agenesis Skin erosion Orthokeratosis Oval face Patchy alopecia Tapetoretinal degeneration Bilateral choanal atresia Abnormality of the rib cage 3-4 toe syndactyly Fibrous syngnathia Overlapping fingers Distal arthrogryposis Strabismus Aplasia/Hypoplasia of the radius Ulnar deviation of finger Vaginal dryness Keratoconus Abnormality of the sternum Otitis externa Hirsutism Tarsal synostosis Abnormality of the hip bone Polycystic ovaries Vertebral segmentation defect Long fingers Onycholysis Sparse or absent eyelashes Hypertension Coronal craniosynostosis Abnormality of the voice Vesicoureteral reflux Amenorrhea Primary amenorrhea Hypergonadotropic hypogonadism Hallux valgus Gonadal dysgenesis Hypoplastic nipples Split foot Growth delay Intrauterine growth retardation Hydrocephalus Intellectual disability, severe Microphthalmia Iris coloboma Convex nasal ridge Delayed eruption of primary teeth Decreased testicular size Postaxial hand polydactyly Renal hypoplasia Aganglionic megacolon Hemivertebrae Plagiocephaly Optic nerve hypoplasia Abnormality of brain morphology Hypoplasia of the bladder Downslanted palpebral fissures Malar flattening Midface retrusion Recurrent respiratory infections Macrotia Lower eyelid coloboma Mandibulofacial dysostosis Abnormality of the kidney Epidermal thickening Cognitive impairment Papule Thickened skin Abnormality of the nail Hypogonadotrophic hypogonadism Osteolysis Mutism Self-injurious behavior Xanthomatosis Amniotic constriction ring Leukonychia Abnormality of the spinal cord Autoamputation of digits Ainhum Honeycomb palmoplantar keratoderma Eyelid coloboma Abnormal facial shape Short nose Depressivity Abnormality of the pinna Coloboma Everted lower lip vermilion Dental crowding Preauricular skin tag Bicuspid aortic valve Cupped ear Preauricular pit Hydroureter Glossoptosis Stenosis of the external auditory canal EEG abnormality Neurological speech impairment Thin skin Parietal foramina Hypopituitarism Median cleft lip Meningocele Calvarial skull defect Upper airway obstruction Preaxial foot polydactyly Bifid nasal tip Alopecia totalis Bifid nose Broad columella Patellar hypoplasia Thick nasal alae Anterior pituitary hypoplasia Large sella turcica Encephalocele Median cleft palate Retrocerebellar cyst Decreased lacrimation Choroid plexus cyst Dermoid cyst Aplasia/Hypoplasia of the tibia Hypoplasia of the olfactory bulb Midline central nervous system lipomas Abnormality of the glabella Clinodactyly of the 5th finger High forehead Pulmonary hypoplasia Delayed eruption of teeth Underdeveloped nasal alae Large fontanelles Depressed nasal ridge Carious teeth Abnormality of the philtrum Synophrys Highly arched eyebrow Abnormal dermatoglyphics Scrotal hypoplasia Abnormality of dental morphology Abnormality of the ear Cutaneous finger syndactyly Abnormality of the ureter Bilateral cleft lip Hypoplasia of the zygomatic bone Bilateral cleft lip and palate Anodontia Sparse lateral eyebrow Cutaneous syndactyly of toes Progressive hypotrichosis Short palpebral fissure Hypertelorism Myopia Macrocephaly Ventriculomegaly Hypoplasia of the corpus callosum Agenesis of corpus callosum Upslanted palpebral fissure Brachycephaly Glaucoma Telecanthus Wide mouth Craniosynostosis Broad nasal tip Cerebellar vermis hypoplasia Internally rotated shoulders



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and High, narrow palate, related diseases and genetic alterations Dysarthria and Muscular dystrophy, related diseases and genetic alterations Depressed nasal bridge and Ectodermal dysplasia, related diseases and genetic alterations Strabismus and Sensory neuropathy, related diseases and genetic alterations

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