Cleft palate, and Nevus

Diseases related with Cleft palate and Nevus

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


Top matches:

Low match FOCAL FACIAL DERMAL DYSPLASIA TYPE IV


Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Low match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME


Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2


A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013).For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (OMIM ).

HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 Is also known as hydatidiform mole, complete

Related symptoms:

  • Nevus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Low match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME


Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Low match CORNELIA DE LANGE SYNDROME 5; CDLS5


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

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

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Nevus flammeus Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Abnormality of the face Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Umbilical hernia Ptosis Abnormality of the kidney Overgrowth Ventricular septal defect Macroglossia Premature birth Ventriculomegaly Large for gestational age Abnormality of the outer ear Downslanted palpebral fissures Enlarged kidney Neonatal hypoglycemia Diastasis recti Hemihypertrophy Visceromegaly Abdominal wall defect Anterior creases of earlobe Auricular pit Hepatomegaly Splenomegaly Global developmental delay Proptosis Malar flattening Brachycephaly Seizures Hydrocephalus

Rare Symptoms - Less than 30% cases


Melanocytic nevus Abnormal facial shape Cloverleaf skull Craniofacial dysostosis Arnold-Chiari malformation Acanthosis nigricans Epidermal acanthosis Respiratory distress Abnormality of the dentition Deeply set eye Epicanthus Craniosynostosis Synophrys Choanal atresia Prominent nasal bridge Patent ductus arteriosus Optic atrophy Feeding difficulties Hypospadias Abnormal cardiac septum morphology Short stature Turricephaly Skin tags Micrognathia Clinodactyly of the 5th finger High forehead Low-set, posteriorly rotated ears Limited elbow extension Depressed nasal bridge Anteverted nares Midface retrusion Choanal stenosis Scoliosis Inguinal hernia Intellectual disability Embryonal neoplasm Cleft lip Sparse hair Abnormality of the ureter Nephroblastoma Omphalocele Polyhydramnios Hypoglycemia Generalized hypotonia Facial asymmetry Micropenis Capillary hemangioma Full cheeks Cardiomegaly Downturned corners of mouth Prominent nose Abdominal distention Wide nose Asymmetry of the thorax Hirsutism Bulbous nose Abnormal eyebrow morphology Mild global developmental delay Highly arched eyebrow Hemifacial hypertrophy Thin vermilion border Posterior helix pit Congenital megaureter Toe syndactyly Small hand Jaundice Hematuria Prominent supraorbital ridges Inflammatory abnormality of the eye Truncal obesity Abnormal sacrum morphology Delayed cranial suture closure Brachyturricephaly Cutis marmorata Bicoronal synostosis Proximal placement of thumb Membranous nephropathy Short foot Short uvula Widely spaced teeth Low anterior hairline Mandibular prognathia Microtia Gynecomastia Long eyelashes Decreased testicular size Broad nasal tip Hypertension Dolichocephaly Agenesis of corpus callosum Palmoplantar cutis gyrata Redundant neck skin Thickened helices Oxycephaly Retrognathia Visceral angiomatosis Palmoplantar cutis laxa Prominent umbilicus Prominent scrotal raphe Hearing impairment Abnormality of the pancreas Growth delay Gastroesophageal reflux Cognitive impairment High palate Myopia Short neck Hypogonadism Long philtrum Obesity Aplasia/Hypoplasia of the earlobes Breech presentation Narrow mouth Narrow palate Macrotia Abnormality of the eye Postnatal growth retardation Feeding difficulties in infancy Palmoplantar keratoderma Small nail Subcutaneous nodule Gingival overgrowth Abnormality of the nail Abnormality of vision Hypoplasia of the zygomatic bone Reduced number of teeth Redundant skin Bifid scrotum Telecanthus Natal tooth Anteriorly placed anus Underdeveloped supraorbital ridges Hearing abnormality Abnormality of the skull Preauricular skin furrow Failure to thrive Proportionate short stature Everted lower lip vermilion Rhabdomyosarcoma Cataract Spasticity Hypoplasia of the corpus callosum Kyphosis Dilatation Hydronephrosis Short philtrum Congenital cataract Microcornea Abnormal heart morphology Tented upper lip vermilion Sparse eyebrow Sensorineural hearing impairment Thrombocytopenia Broad forehead Finger syndactyly Hip dislocation Tetralogy of Fallot Broad thumb Horseshoe kidney Autistic behavior Clinodactyly Abnormality of the genitourinary system Intracranial hemorrhage Scarring Carious teeth Cleft upper lip Focal-onset seizure Abnormal blistering of the skin Hemiparesis Short chin Cutis laxa Hemangioma Dermal atrophy Cupped ear Delayed speech and language development Skin vesicle Aplasia cutis congenita Unilateral cleft lip Abnormality of the cheek Fragmented elastic fibers in the dermis Abnormal mast cell morphology Abnormality of buccal mucosa Abnormality of epidermal morphology Neoplasm Muscle weakness Coxa valga Adducted thumb Aplasia/Hypoplasia of the cerebellum Hypopigmentation of the skin Prune belly Postauricular pit Visual impairment Brachydactyly Frontal bossing Respiratory insufficiency Renal insufficiency Posteriorly rotated ears Conductive hearing impairment Dry skin Hypoplasia of the maxilla Abnormality of earlobe Migraine Dental malocclusion Short metacarpal Convex nasal ridge Abnormal form of the vertebral bodies Abnormal palate morphology Abnormality of the metacarpal bones Increased intracranial pressure Laryngomalacia Glomerulonephritis Tethered cord Abnormality of the vasculature Genu varum Aplasia/hypoplasia of the humerus Abnormality of coagulation Absent radius Patellar dislocation Fused cervical vertebrae Aplasia of the uterus Fibular aplasia Phocomelia Aplasia/Hypoplasia of the patella Cervical ribs Aplasia/Hypoplasia of the ulna Nevus flammeus of the forehead Central hypotonia Tibial torsion Axial malrotation of the kidney Polydactyly Coarse facial features Apnea Renal cyst Psoriasiform dermatitis Supernumerary nipple Neuroblastoma Syringomyelia Happy demeanor



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Coarse facial features, related diseases and genetic alterations Lymphoma and Leukoencephalopathy, related diseases and genetic alterations Depressed nasal bridge and Dental crowding, related diseases and genetic alterations Flexion contracture and Recurrent fractures, related diseases and genetic alterations

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