Cleft palate, and Prominent forehead

Diseases related with Cleft palate and Prominent forehead

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Medium match ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS


ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS Is also known as scott-taor syndrome|sps|ischiopatellar dysplasia|patella aplasia, coxa vara, and tarsal synostosis|small patella syndrome|coxopodopatellar syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS

Medium match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

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Other less relevant matches:

Medium match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Medium match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE


Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type|thanatophoric dysplasia, torrance variant|lethal short-limbed platyspondylic dwarfism, torrance type|platyspondylic lethal skeletal dysplasia, torrance type|plsd-t

Related symptoms:

  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Medium match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Medium match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

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

Symptoms // Phenotype % cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Low-set ears Frontal bossing Scoliosis Short nose Intellectual disability Cryptorchidism Bifid uvula Hypertelorism High palate Skeletal dysplasia Micrognathia Failure to thrive Osteopenia

Rare Symptoms - Less than 30% cases


Eczema Hypogonadism Long philtrum Narrow chest Delayed speech and language development Hip dislocation Fever Platyspondyly Talipes equinovarus Metaphyseal cupping Generalized hypotonia Wide nasal bridge Abnormality of the dentition Cleft lip Deeply set eye Polydactyly Abnormality of the hair Joint hyperflexibility Delayed eruption of teeth Long upper lip Sparse hair Short femur Carious teeth Wide nose Thin vermilion border Smooth philtrum Thin upper lip vermilion Short long bone Pes planus Postnatal growth retardation Epiphyseal dysplasia Short palpebral fissure Flared metaphysis Malar flattening Sandal gap Micromelia Craniosynostosis Disc-like vertebral bodies Cataract Decreased cranial base ossification Severe limb shortening Severe platyspondyly Prominent nose Midface retrusion Optic atrophy Anteverted nares Gastroesophageal reflux Joint laxity Hypoplasia of the maxilla Abnormality of skin pigmentation Wide mouth Hypoplastic pubic bone Prominent nasal bridge Pulmonic stenosis Carpal synostosis Flat acetabular roof Abnormality of the carpal bones Abdominal distention Microretrognathia Widely spaced teeth Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Short neck Polyhydramnios Coarse facial features Pulmonary hypoplasia Short palm Short distal phalanx of finger Short foot Bowing of the long bones Neonatal short-limb short stature Hypoplastic scapulae Abnormality of the abdominal wall Hypoplastic ischia Hypoplasia of the capital femoral epiphysis Lethal skeletal dysplasia Hypoplastic ilia Hypoplastic pelvis Microdontia Hydrops fetalis Protuberant abdomen Thin ribs Short thorax Genu varum Disproportionate short-limb short stature Short ribs Esotropia Brittle hair Large fontanelles Strabismus Umbilical hernia Pes cavus Thrombocytopenia Kyphosis Edema Ventricular septal defect Fused fourth and fifth metacarpals Generalized tonic-clonic seizures Camptodactyly of 2nd-5th fingers Metacarpal synostosis Foot oligodactyly Flared nostrils Hand oligodactyly Abnormal renal morphology Leukemia Neutropenia Fibular hypoplasia Short 5th metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Abnormality of chromosome segregation Recurrent otitis media Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Postaxial foot polydactyly Oligodactyly Hyperpigmentation of the skin Delayed closure of the anterior fontanelle Posterior wedging of vertebral bodies Posterior Y-sutural cataract Sutural cataract High iliac wings Narrow iliac wings Hypoplasia of teeth Decreased skull ossification Forehead hyperpigmentation Capillary hemangioma Premature loss of teeth Prominent supraorbital ridges Coarse hair Hemangioma Wide anterior fontanel Punctate cataract Downslanted palpebral fissures Tibial bowing Abnormality of the cardiovascular system Anophthalmia Deep philtrum Hemivertebrae Horseshoe kidney Abnormal vertebral morphology Split hand Postaxial hand polydactyly Syndactyly Single transverse palmar crease Cleft upper lip Toe syndactyly Blepharophimosis Retrognathia Posteriorly rotated ears Microphthalmia Absence seizures Absent speech Wide intermamillary distance Malignant hyperthermia Dilated cardiomyopathy Delayed puberty Tachycardia Hepatic steatosis Muscle cramps Blue sclerae Chest pain Hepatitis Cardiac arrest Hypogonadotrophic hypogonadism Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Pierre-Robin sequence Elevated hepatic transaminase Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Hearing impairment Sensorineural hearing impairment Abnormality of the liver Hypoglycemia Flat face Patellar dislocation Advanced ossification of carpal bones Craniofacial disproportion Hyperextensible skin Pain Cutis laxa Hypertension Abnormality of the skeletal system Hip dysplasia Pulmonary arterial hypertension Abnormality of epiphysis morphology Short chin Coxa vara Tarsal synostosis Patellar aplasia Dyspnea Patellar hypoplasia Aplasia/Hypoplasia of the patella Flat capital femoral epiphysis Iliac horns Talocalcaneal synostosis Hypoplasia of the lesser trochanter Wide capital femoral epiphyses Decreased body weight Muscle weakness Fatigue Cardiomyopathy Intellectual disability, mild Elevated serum creatine phosphokinase Hypothyroidism Muscular hypotonia Intrauterine growth retardation Round face Feeding difficulties Skin vesicle Cellulitis Gingivitis Dystrophic fingernails Atelectasis Increased IgE level Paronychia Generalized abnormality of skin Proptosis Seizures Microcephaly Pectus excavatum Spasticity Motor delay Chronic otitis media Epicanthus Hypoplasia of the corpus callosum Intellectual disability, severe Dystonia Agenesis of corpus callosum Telecanthus Muscular hypotonia of the trunk Abnormality of the pinna Protruding ear Short philtrum Small for gestational age Neurological speech impairment Downturned corners of mouth Highly arched eyebrow Osteomyelitis Eosinophilia Kyphoscoliosis Bilateral cryptorchidism Hypospadias Delayed skeletal maturation Micropenis Hydronephrosis Respiratory tract infection Muscular dystrophy Growth hormone deficiency Bilateral sensorineural hearing impairment Abnormality of the genital system Hypocalcemia Nephrocalcinosis Hypercalciuria Hypercalcemia Adrenal insufficiency Skin ulcer Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Congenital adrenal hypoplasia Dilatation Recurrent infections Recurrent respiratory infections Skin rash Cough Papule Pruritus Recurrent fractures Lymphoma Abnormality of the face Short 3rd metacarpal



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Hypertrophic cardiomyopathy, related diseases and genetic alterations Hepatomegaly and Recurrent fractures, related diseases and genetic alterations Hydrocephalus and Arthritis, related diseases and genetic alterations Flexion contracture and Weight loss, related diseases and genetic alterations Strabismus and Dystonia, related diseases and genetic alterations

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