Cleft palate, and Anorexia

Diseases related with Cleft palate and Anorexia

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


Top matches:

Medium match WAARDENBURG SYNDROME, TYPE 3; WS3


Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

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Other less relevant matches:

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match CLASSIC HOMOCYSTINURIA


Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match ACRODERMATITIS ENTEROPATHICA


Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

ACRODERMATITIS ENTEROPATHICA Is also known as inherited zinc deficiency|aez|acrodermatitis enteropathica, zinc deficiency type

Related symptoms:

  • Short stature
  • Failure to thrive
  • Visual impairment
  • Alopecia
  • Cerebral cortical atrophy


SOURCES: ORPHANET MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA

Low match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Low match GLUCAGONOMA


Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.

GLUCAGONOMA Is also known as glucagonoma syndrome

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Depressivity
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET MESH MENDELIAN

More info about GLUCAGONOMA

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Weight loss Uncommon - Between 30% and 50% cases
Abnormality of skin pigmentation Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dental crowding Seizures Psychosis Failure to thrive Generalized hypotonia Behavioral abnormality Macrocephaly Glossitis Pectus excavatum Prominent nasal bridge Global developmental delay Hepatomegaly High palate Cognitive impairment Atrial septal defect Abnormality of the dentition Vomiting

Rare Symptoms - Less than 30% cases


Narrow face Visual impairment Alopecia Skin rash Malabsorption Headache Glaucoma Disproportionate tall stature Emotional lability Anemia Abnormal blistering of the skin Nasal speech Poor appetite Feeding difficulties Diarrhea Thromboembolism Thin upper lip vermilion Low-set ears Micrognathia Growth delay Scoliosis Hyperactivity Autism Aggressive behavior Long face Joint laxity Pain Short philtrum Furrowed tongue Joint hyperflexibility Arachnodactyly Attention deficit hyperactivity disorder Frontal bossing Abnormal facial shape Hypertension Gastrointestinal hemorrhage Strabismus Pectus carinatum Patent ductus arteriosus Depressivity Hernia Camptodactyly of finger Tapered finger Clinodactyly Cleft lip Neoplasm Brachydactyly Nystagmus Hearing impairment Flexion contracture Short stature Myopia Joint stiffness Recurrent fractures Retinal detachment Ridged nail Broad face Genu valgum Elevated hepatic transaminase Abnormality of the tongue Optic atrophy Cheilitis Subvalvular aortic stenosis Osteoporosis Ridged fingernail Amblyopia Paronychia Kyphosis Six lumbar vertebrae Generalized abnormality of skin Sparse scalp hair Abnormal eyelid morphology Abnormality of retinal pigmentation Arteriovenous malformation Cryptorchidism Autistic behavior Thin vermilion border Abnormality of amino acid metabolism Coarctation of aorta Subcutaneous hemorrhage Arterial thrombosis Cerebral ischemia Cerebral cortical atrophy Photophobia Erythema Esophageal varix Pulmonary embolism Venous thrombosis Dry skin Hemiplegia/hemiparesis Chronic diarrhea Skin ulcer Abnormality of the nail Conjunctivitis Ectopia lentis Pustule Blepharitis Intracranial hemorrhage Abnormal eyebrow morphology Urticaria Corneal erosion Hypermetropia Peripheral demyelination Hyperreflexia Nail dystrophy Cachexia Abnormal intestine morphology Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Lymphedema Nail dysplasia Paresthesia Autoimmunity Hypoalbuminemia Abdominal pain Splenomegaly Edema Fatigue Muscle weakness Abnormal gastrointestinal motility Necrolytic migratory erythema Lack of bowel sounds Hypokalemia Clubbing Extrahepatic cholestasis Clubbing of fingers Gastrointestinal carcinoma Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Dystrophic toenail Hypoplastic toenails Hematochezia Hypomagnesemia Abnormality of the vasculature Xerostomia Generalized hyperpigmentation Sparse body hair Colon cancer Aplasia/Hypoplasia of the eyebrow Subcutaneous lipoma Normochromic anemia Fever Dysdiadochokinesis Diabetes mellitus Constipation Halitosis Hypermethioninemia Hypertyrosinemia Homocystinuria CNS demyelination Gout Aortic regurgitation Nausea and vomiting Hepatitis Bipolar affective disorder Abnormality of eye movement Abnormality of the liver Abnormality of the eye Abnormality of the nervous system Dystonia Tremor Pruritus Ascites Adrenocortical adenoma Neoplasm of the pancreas Intermittent jaundice Stomatitis Parathyroid adenoma Primary hyperparathyroidism Acanthocytosis Chronic fatigue Pituitary adenoma Intrahepatic cholestasis Prolactin excess Hypercalcemia Episodic abdominal pain Abnormality of abdomen morphology Increased circulating cortisol level Growth hormone excess Increased circulating gonadotropin level Abnormality of the thyroid gland Steatorrhea Intestinal obstruction Shallow orbits Downslanted palpebral fissures Sandal gap Lymphoma Acute myeloid leukemia Cellulitis Neurofibromas Myelodysplasia Sarcoma Increased intracranial pressure Postural instability Chromosome breakage Leukemia Carcinoma Proptosis Visual loss Malar flattening Blindness Hydrocephalus Uveitis Osteosarcoma Dacryocystitis Leiomyosarcoma Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Anisocoria Anemia of inadequate production Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Acute monocytic leukemia Poliosis Partial albinism Histiocytoma Blepharophimosis Hypopigmentation of the skin Thick vermilion border Paraplegia Synophrys Arthrogryposis multiplex congenita Spastic paraplegia Telecanthus Underdeveloped nasal alae Mandibular prognathia Syndactyly Intellectual disability, severe Abnormality of the skeletal system Wide nasal bridge Sensorineural hearing impairment Hypertelorism Abdominal distention Aganglionic megacolon Narrow naris Carpal synostosis Bronchomalacia White forelock Atelectasis White hair Heterochromia iridis Blue irides Vitiligo Joint contracture of the hand Sprengel anomaly Cutaneous finger syndactyly Premature graying of hair Albinism Congenital sensorineural hearing impairment Hypopigmented skin patches Scapular winging Vitritis Liposarcoma Horseshoe kidney Delayed speech and language development Inguinal hernia Hypospadias Microphthalmia Short nose Gait disturbance Epicanthus Ataxia Posteriorly rotated ears Abnormally folded helix Cat cry Oppositional defiant disorder Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Clinodactyly of the 5th finger Gait ataxia Macroorchidism Everted lower lip vermilion Aspiration Aortic valve stenosis Stereotypy Pulmonary arterial hypertension Prominent nose Single transverse palmar crease Oral cleft Macrotia Facial asymmetry Pulmonic stenosis Small for gestational age Respiratory tract infection Intellectual disability, moderate Anxiety Gastroesophageal reflux Abnormality of the rib cage Aortic root aneurysm Sebaceous gland carcinoma Neuroblastic tumors Agenesis of corpus callosum Dilatation Intellectual disability, mild Ventricular septal defect Intrauterine growth retardation Muscular hypotonia Pineoblastoma Brachycephaly Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Prominent forehead High forehead Slender finger Schizophrenia Narrow nasal bridge Long nose Obsessive-compulsive behavior Aortic aneurysm Abnormality of the voice Deep philtrum Abnormality of the genitourinary system Protruding ear Aplasia/Hypoplasia of the corpus callosum Short chin Hallucinations Broad thumb Open mouth Hypoplasia of the maxilla Neurological speech impairment Decreased taste sensation



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