Cleft palate, and Macroglossia

Diseases related with Cleft palate and Macroglossia

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


Top matches:

Medium match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

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Other less relevant matches:

Medium 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

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium 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

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Low match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Low match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

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

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Enlarged kidney Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polyhydramnios Umbilical hernia Intellectual disability Large for gestational age Visceromegaly Generalized hypotonia Patent ductus arteriosus Anteverted nares Ventricular septal defect Microcephaly Splenomegaly Inguinal hernia Diastasis recti Nevus flammeus Hypoglycemia Abnormality of the kidney Overgrowth Nephroblastoma Hemihypertrophy Neonatal hypoglycemia Anterior creases of earlobe Premature birth Hearing impairment Hypertelorism Mandibular prognathia Wide mouth Malar flattening Omphalocele Abnormality of the face Abnormality of the outer ear Retrognathia Abdominal wall defect Hydrocephalus Sensorineural hearing impairment Proptosis Auricular pit Scoliosis Growth delay Deeply set eye Respiratory distress Short stature Depressed nasal bridge Abnormal facial shape Neoplasm Prominent forehead Cardiomegaly Macrocephaly Coarse facial features Short nose Midface retrusion

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Protruding tongue Polydactyly Epicanthus Severe global developmental delay Hypothyroidism Wide nasal bridge Apnea Hypertrophic cardiomyopathy Neuroblastoma Obesity Hernia Abnormality of earlobe Short neck Brachydactyly Long philtrum Abnormality of pancreas morphology Abnormality of the dentition Abdominal distention Micrognathia Congenital megaureter Posterior helix pit Posteriorly rotated ears Capillary hemangioma Prominent nose Hydronephrosis Depressed nasal ridge Large fontanelles Wide anterior fontanel Strabismus Brachycephaly Neurodevelopmental delay Sleep apnea Delayed cranial suture closure Jaundice Tall stature Congenital diaphragmatic hernia Median cleft lip and palate Ascites Muscular hypotonia Edema Low-set ears Hypospadias Agenesis of corpus callosum Visual impairment Mild global developmental delay Lissencephaly Respiratory insufficiency Intellectual disability, severe Micromelia Embryonal neoplasm Rhabdomyosarcoma Abnormality of the ureter Facial asymmetry Muscle weakness Dysphagia Cataract Cleft lip Cleft upper lip High forehead Lumbar scoliosis Abnormality of upper lip Urogenital fistula Abnormal prolactin level Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Fetal ascites Nephroblastomatosis Leiomyosarcoma Thymus hyperplasia Elevated alpha-fetoprotein Hepatoblastoma Thickened helices Choroideremia Asymmetric growth Pseudohypoparathyroidism Otosclerosis Ureteral duplication Naevus flammeus of the eyelid Hypoplasia of the abdominal wall musculature Interrupted aortic arch Thick upper lip vermilion Hypoxemia Round face Lumbar hyperlordosis Adrenocortical cytomegaly Abnormality of the shape of the midface Hypoplasia of penis Abnormality of the cardiovascular system Specific learning disability Large intestinal polyposis Open mouth High, narrow palate Flat face Smooth philtrum Dolichocephaly Abnormality of the pinna Hyperlordosis Status epilepticus Renal dysplasia Facial hemangioma Global brain atrophy Volvulus Gonadoblastoma Renal neoplasm Polysplenia Adrenocortical carcinoma Hamartoma Infra-orbital crease Large placenta Hyperinsulinemia Polycystic kidney dysplasia Growth abnormality Tented upper lip vermilion Branchial cyst Bilateral single transverse palmar creases Hepatic fibrosis Renal hamartoma Ileal atresia Multiple renal cysts Hypopituitarism Autism Hyperactivity Aspiration Hoarse voice Hypogonadotrophic hypogonadism Holoprosencephaly Abnormality of cardiovascular system morphology Optic nerve hypoplasia Adrenal insufficiency Hypoplastic left heart Muscular hypotonia of the trunk Ectopic anterior pituitary gland Prolonged neonatal jaundice Absent septum pellucidum Anterior pituitary agenesis Neurological speech impairment Pituitary hypothyroidism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Ectopic posterior pituitary Decreased circulating ACTH level Anterior pituitary hypoplasia Absence of secondary sex characteristics Concave nasal ridge Osteoporosis of vertebrae Short attention span Aspiration pneumonia Severe postnatal growth retardation Moon facies Decreased cervical spine mobility Abnormality of secondary sexual hair Feeding difficulties in infancy Poor speech Exocrine pancreatic insufficiency Redundant skin Nephrogenic rest Prominent metopic ridge Pituitary dwarfism Distal ileal atresia Polycythemia Prominent occiput Melanocytic nevus Prominent xiphoid process Fatigue Frontal bossing Delayed skeletal maturation Constipation Pneumonia Hypogonadism Osteopenia Long face Nephrolithiasis Amenorrhea Decreased testicular size Hypotension Nephropathy Growth hormone deficiency Vesicoureteral reflux Accelerated skeletal maturation Abnormality of the eye Arnold-Chiari malformation Relative macrocephaly Hypercalciuria Infertility Delayed puberty Pulmonic stenosis Abnormality of digit Depressivity Hepatosplenomegaly Retinal atrophy Intellectual disability, profound Cerebellar vermis hypoplasia Encephalocele Pachygyria Heterotopia Severe muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Congenital contracture Congenital muscular dystrophy Hypoplasia of the brainstem Skeletal muscle hypertrophy Congenital glaucoma Spinal rigidity Abnormality of the periventricular white matter Hypoplasia of the pons Congenital cataract Buphthalmos Peters anomaly Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Persistent pupillary membrane Moderate myopia Renal cyst Psoriasiform dermatitis Supernumerary nipple Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Polymicrogyria Hypermetropia Prune belly Achalasia Abnormality of the skeletal system Blindness Dystonia Intellectual disability, mild Kyphosis Immunodeficiency Kyphoscoliosis Mental deterioration Small for gestational age Oral cleft Neurodegeneration Generalized dystonia Hypoplastic scapulae Bulbar signs Externally rotated hips Abnormality of the cerebral white matter Microphthalmia Muscular dystrophy Neonatal hypotonia Glaucoma Cerebellar hypoplasia Elevated serum creatine phosphokinase Dilatation Ventriculomegaly Delayed speech and language development Myopia Flexion contracture Autistic behavior Micropenis Abnormal heart morphology Clinodactyly Tethered cord Postauricular pit Cerebral atrophy Mixed hearing impairment Microdontia Cerebral calcification Choanal atresia Bowing of the long bones Hypoplasia of dental enamel Gingival overgrowth Increased bone mineral density Narrow palate Plagiocephaly Abnormality of the genitourinary system Elevated alkaline phosphatase Hypophosphatemia Hydroureter Thoracic hypoplasia Natal tooth Downturned corners of mouth Bilateral choanal atresia Renal insufficiency Ptosis Hypoplastic nasal bridge Craniofacial disproportion Alveolar ridge overgrowth Metaphyseal sclerosis Mandibular aplasia Obstructive sleep apnea Brachyturricephaly Long hallux Gingival fibromatosis Generalized osteosclerosis Choanal stenosis Osteopetrosis Highly arched eyebrow Pulmonary hypoplasia Failure to thrive Severe failure to thrive Hypoplasia of the corpus callosum Cardiomyopathy Hypertonia Absent speech Thin vermilion border Bifid uvula Delayed myelination Dandy-Walker malformation Ventricular hypertrophy Small nail Left ventricular hypertrophy Short chin Failure to thrive in infancy Cutis marmorata Periorbital fullness Bulbous nose Downslanted palpebral fissures Arthrogryposis multiplex congenita Protruding ear Dyspnea Narrow mouth Respiratory failure Pectus excavatum High palate Skull asymmetry Hemifacial hypertrophy Asymmetry of the thorax Abnormal eyebrow morphology Full cheeks Hematuria Synophrys Subchorionic septal cyst



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