Cleft palate, and Sloping forehead

Diseases related with Cleft palate and Sloping forehead

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


Top matches:

Medium match NEU-LAXOVA SYNDROME 2; NLS2


Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Medium match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Medium match AMISH LETHAL MICROCEPHALY


Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

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Other less relevant matches:

Medium match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Medium match GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS


Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Medium match HOLOPROSENCEPHALY 9; HPE9


Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Medium match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE


Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Medium match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Cleft palate and Sloping forehead

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Global developmental delay Cleft lip Short stature Seizures Intellectual disability Ventricular septal defect Flexion contracture Growth delay Low-set ears Generalized hypotonia

Rare Symptoms - Less than 30% cases


Osteopenia Cleft soft palate Osteoporosis Skeletal dysplasia Decreased skull ossification Partial agenesis of the corpus callosum Retrognathia Progressive microcephaly Acidosis Pulmonary hypoplasia Lactic acidosis Severe global developmental delay Muscular hypotonia of the trunk Microphthalmia Brachycephaly Recurrent respiratory infections Hernia Talipes equinovarus Myopia Epicanthus Tapered finger Hearing impairment Hypotelorism Clinodactyly of the 5th finger Growth hormone deficiency Posteriorly rotated ears Anophthalmia Oligohydramnios Postaxial hand polydactyly Full cheeks Microcornea Abnormal facial shape Abnormality of cardiovascular system morphology Hypertonia Hydrocephalus Agenesis of corpus callosum Patent ductus arteriosus Ventriculomegaly Atrial septal defect Depressed nasal bridge Oral cleft Macrocephaly Pes planus Autism Polydactyly Optic atrophy Delayed speech and language development Broad nasal tip Abnormal cortical gyration Micropenis Depressed nasal ridge Decreased fetal movement Macrotia Short neck Hemivertebrae Long face Midface retrusion Failure to thrive Feeding difficulties Bilateral cleft lip Bilateral cleft lip and palate Preaxial hand polydactyly EEG abnormality Hypoglycemia Aggressive behavior Difficulty walking Attention deficit hyperactivity disorder Gait ataxia Small for gestational age Delayed puberty Hyperactivity Poor speech Inability to walk Agenesis of incisor Single median maxillary incisor Alobar holoprosencephaly Thick vermilion border Patent foramen ovale Downturned corners of mouth Optic nerve hypoplasia Round face Holoprosencephaly Prominent antihelix Hypoplasia of penis Tetraparesis Semilobar holoprosencephaly Open mouth Lower limb spasticity Preauricular skin tag Diabetes mellitus Wide cranial sutures Hypogonadism Neurodevelopmental delay Asymmetric ventricles Diastolic heart murmur Large forehead Skin tags Median cleft lip Anterior pituitary agenesis Anterior pituitary hypoplasia Short hard palate Nystagmus Strabismus Spasticity Single naris Spastic tetraparesis Panhypopituitarism Median cleft lip and palate Hyperreflexia Hypoplasia of the premaxilla Heart murmur Hypoplasia of the corpus callosum Thoracic hemivertebrae Intellectual disability, severe Long philtrum Absent speech Obesity Hypospadias Babinski sign Underdeveloped tragus Prominent occiput Pancreatitis Abnormality of dental enamel Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Sleep apnea Spina bifida occulta Coxa vara Wormian bones Increased number of teeth Sinusitis Abnormality of epiphysis morphology Large fontanelles Abnormality of the ribs Recurrent fractures Delayed eruption of teeth High, narrow palate Open bite Short clavicles Narrow chest Dimple chin Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Abnormality of the thumb Sprengel anomaly Dystrophic fingernails Dystrophic toenail Hypoplastic scapulae Down-sloping shoulders Hypoplasia of the zygomatic bone Hearing abnormality Glossoptosis Genu valgum Carious teeth Widely spaced teeth Tall chin Bulbous nose Joint hyperflexibility Camptodactyly of finger Blepharophimosis Polyhydramnios Hypothyroidism Severe short stature Birth length less than 3rd percentile Prominent nose Abdominal obesity Male hypogonadism Large earlobe Depressed nasal tip External genital hypoplasia Agitation Drooling Bifid uvula Specific learning disability Broad forehead Thyroid agenesis Mandibular prognathia Abnormality of the dentition Frontal bossing Brachydactyly Abnormality of the cheek Neoplasm of the tongue Thyroid dysgenesis Ectopic thyroid Short palpebral fissure Thyroid hypoplasia Abnormal nasolacrimal system morphology Abnormality of the antihelix Submucous cleft hard palate Atrioventricular canal defect Long nose Bilateral single transverse palmar creases Coarctation of aorta Hydronephrosis Dental malocclusion Situs inversus totalis Dilation of lateral ventricles Organic aciduria Severe lactic acidosis Congenital microcephaly Spinal dysraphism Temperature instability Small anterior fontanelle Cataract Low-set, posteriorly rotated ears Talipes Dandy-Walker malformation Ambiguous genitalia Encephalocele Bowing of the long bones Multicystic kidney dysplasia Hypoplasia of the fovea Ureteral duplication Aplasia/Hypoplasia of the tongue Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Accessory spleen Pancreatic cysts Congenital hepatic fibrosis Aplasia/Hypoplasia of the corpus callosum Furrowed tongue Asplenia Sclerocornea Postaxial foot polydactyly Male pseudohermaphroditism Anencephaly Enlarged cisterna magna Limb hypertonia True hermaphroditism Intellectual disability, mild Low posterior hairline Decreased testicular size Cleft upper lip Synophrys Autistic behavior Upslanted palpebral fissure Rocker bottom foot Prominent supraorbital ridges Ichthyosis Abnormality of the pinna Proptosis Edema Intrauterine growth retardation High palate Nasal speech Preaxial polydactyly Lissencephaly Irritability Spina bifida Cerebellar vermis hypoplasia Aciduria Limitation of joint mobility Metabolic acidosis Generalized tonic-clonic seizures Myoclonus Large hands Cerebellar hypoplasia Encephalopathy Hepatomegaly Long toe Thoracic kyphosis Slender finger Pancreatic fibrosis Lobar holoprosencephaly Hypoplasia of the maxilla Abnormality of the kidney Hepatic fibrosis Congenital diaphragmatic hernia Convex nasal ridge Underdeveloped nasal alae Smooth philtrum Prominent nasal bridge Telecanthus Short long bone Abnormal heart morphology Thrombocytopenia Anteverted nares Abnormality of the skeletal system Aortic rupture Abnormal eye morphology Microretrognathia Polycystic kidney dysplasia High-frequency sensorineural hearing impairment Periportal fibrosis Postaxial polydactyly Pulmonic stenosis Microtia Short philtrum Malar flattening Respiratory distress Large fleshy ears Multiple joint contractures Ulnar deviation of the hand Double outlet right ventricle Abnormal lung lobation Aniridia Long palpebral fissure Flared metaphysis Arterial rupture Keloids Cystic liver disease Inguinal hernia Muscular dystrophy Scarring Umbilical hernia Kyphoscoliosis Hyperkeratosis Elevated serum creatine phosphokinase Myopathy Joint hypermobility Cardiomyopathy Gait disturbance Skeletal muscle atrophy Motor delay Muscle weakness Sensorineural hearing impairment Abnormality of the foot Bruising susceptibility Bladder diverticulum Increased susceptibility to fractures Follicular hyperkeratosis Soft skin Atrophic scars Difficulty climbing stairs Disproportionate tall stature Congenital muscular dystrophy Poor suck Waddling gait Hyperextensible skin Easy fatigability Poor head control Cutis laxa Severe muscular hypotonia Blue sclerae Neck muscle hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Facial asymmetry, related diseases and genetic alterations Macrocephaly and Frontal bossing, related diseases and genetic alterations Tremor and Hypercholesterolemia, related diseases and genetic alterations High palate and Underdeveloped nasal alae, related diseases and genetic alterations

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