Cleft palate, and Facial asymmetry

Diseases related with Cleft palate and Facial asymmetry

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


Top matches:

Low match TREACHER COLLINS SYNDROME 2; TCS2


Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

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

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Other less relevant matches:

Low match BRANCHIOOTIC SYNDROME


Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1|branchiootic dysplasia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIOOTIC SYNDROME

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Low match AURICULOCONDYLAR SYNDROME


Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Low match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Facial asymmetry

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Abnormality of the pinna Uncommon - Between 30% and 50% cases
Conductive hearing impairment Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Preauricular skin tag Cupped ear Glossoptosis Ventricular septal defect Cleft lip Abnormality of the outer ear Abnormality of the kidney Atresia of the external auditory canal Microtia

Rare Symptoms - Less than 30% cases


Obstructive sleep apnea Preauricular pit Hypotelorism Depressivity Micropenis Protruding ear Dental crowding High palate Abnormality of the ribs Webbed neck Cryptorchidism Cleft upper lip Mixed hearing impairment Stenosis of the external auditory canal Abnormality of cardiovascular system morphology Short neck Macrocephaly Scoliosis Unilateral renal agenesis Apnea Bimanual synkinesia Muscle weakness Vertebral fusion Low posterior hairline Abnormal facial shape Decreased cervical spine mobility Downslanted palpebral fissures Coloboma Bifid uvula Narrow mouth Cognitive impairment Alopecia Sprengel anomaly Ichthyosis Ptosis Hypogonadotrophic hypogonadism Limited neck range of motion Respiratory distress Cervical C2/C3 vertebral fusion Fused cervical vertebrae External ear malformation Abnormal vertebral segmentation and fusion Congenital muscular torticollis Autistic behavior Clinodactyly Abnormal heart morphology Inguinal hernia Polyhydramnios Umbilical hernia Hypoglycemia Cleft at the superior portion of the pinna Hamartoma of tongue Macroglossia Splenomegaly Premature birth Overgrowth Impaired mastication Omphalocele Periauricular skin pits Snoring Mandibular condyle aplasia Hepatomegaly Abnormality of the crus of the helix Abnormality of the temporomandibular joint Question mark ear Vein of Galen aneurysmal malformation Hypoplastic superior helix Anterior open-bite malocclusion Overfolding of the superior helices Cleft helix Speech articulation difficulties Delayed speech and language development Nephroblastoma Difficulty in tongue movements Postauricular skin tag Seizures Aplasia/Hypoplasia of the external ear Neoplasm Hypoplasia of first ribs Mandibular condyle hypoplasia Abnormality of the face Short stature Large for gestational age Brachial plexus neuropathy Hoarse voice Narrow face Narrow palpebral fissure Scapular winging Axonal degeneration Facial paralysis Chronic pain Dysesthesia Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Radial head subluxation Hypertelorism Postural instability Polydactyly Anal atresia Flat face Postaxial polydactyly Wide intermamillary distance Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Abnormality of the vertebral column Abnormal cranial nerve morphology Ectopic anus Short sternum Abnormality of the shoulder Abnormal sacrum morphology Sensory impairment Paresthesia Abnormality of the ureter Depressed nasal bridge Enlarged kidney Neonatal hypoglycemia Nevus flammeus Diastasis recti Hemihypertrophy Visceromegaly Rhabdomyosarcoma Abdominal wall defect Anterior creases of earlobe Embryonal neoplasm Auricular pit Ankylosis Pain Flexion contracture Epicanthus Finger syndactyly Peripheral neuropathy Skeletal muscle atrophy Fatigue Abnormality of the skeletal system Edema Syndactyly Hyporeflexia Hyperhidrosis Upslanted palpebral fissure Deeply set eye Rigidity Myalgia Paralysis Blepharophimosis Microglossia Relative macrocephaly Facial cleft Mandibulofacial dysostosis Short nose Everted lower lip vermilion Hypoplasia of the maxilla Sparse and thin eyebrow Sparse eyelashes Bicuspid aortic valve Sparse eyebrow Hydroureter Trismus Eyelid coloboma Delayed eruption of primary teeth Wide nasal bridge Lower eyelid coloboma Retrognathia Facial palsy Sleep apnea Laryngomalacia Severe sensorineural hearing impairment Upper airway obstruction Abnormal nasolacrimal system morphology Body odor Branchial cyst Abnormality of the inner ear Abnormality of the dentition Honeycomb palmoplantar keratoderma Tracheobronchomalacia Abnormality of the nail Malar flattening Choanal atresia Choanal stenosis Bilateral conductive hearing impairment Microcephaly Hyperkeratosis Papule Hypotrichosis Palmoplantar keratoderma Thickened skin Osteolysis Epidermal thickening Mutism Palmoplantar hyperkeratosis Self-injurious behavior Abnormal toenail morphology Xanthomatosis Amniotic constriction ring Leukonychia Plantar hyperkeratosis Abnormality of the spinal cord Autoamputation of digits Ainhum Branchial fistula Lip pit Dental malocclusion Stiff neck Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Intestinal malrotation Otitis media Abnormality of the genitourinary system Rocker bottom foot Posterior fossa cyst Eunuchoid habitus Moderate hearing impairment Abnormality of limb bone morphology Mild conductive hearing impairment Cervicomedullary schisis Global developmental delay Generalized hypotonia Feeding difficulties Posteriorly rotated ears Low-set, posteriorly rotated ears Full cheeks Round face Alobar holoprosencephaly Bilateral renal agenesis Cochlear malformation Oral cleft Hypoplasia of the cochlea Branchial anomaly Morphological abnormality of the middle ear Dilatated internal auditory canal Ataxia Pes cavus Hypogonadism Abnormality of the eye Delayed puberty Abnormality of eye movement Renal agenesis Testicular atrophy Decreased testicular size Gynecomastia Holoprosencephaly Azoospermia Anosmia Bilateral cryptorchidism Anodontia Sparse pubic hair Hyposmia Abnormal renal morphology Microphallus Aplasia of the ulna



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Renal agenesis, related diseases and genetic alterations Downslanted palpebral fissures and Nevus, related diseases and genetic alterations High palate and Macrocephaly, related diseases and genetic alterations Flexion contracture and Leukodystrophy, related diseases and genetic alterations

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