Cleft palate, and Pallor

Diseases related with Cleft palate and Pallor

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


Top matches:

Medium match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Medium match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Medium match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

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Other less relevant matches:

Medium match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Medium match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match RAMON SYNDROME


A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Hypertelorism Long philtrum Ptosis Nystagmus Seizures Atrial septal defect Growth delay Intrauterine growth retardation Anemia Neoplasm Abnormality of the genital system Abnormal heart morphology Abnormality of the urinary system Ventricular septal defect Global developmental delay Generalized hypotonia Cleft upper lip Hydrocephalus Sensorineural hearing impairment Hypospadias Kyphosis Motor delay Epicanthus Triphalangeal thumb Short neck Glaucoma Cleft lip Retrognathia Reticulocytopenia Vomiting Fatigue Thrombocytopenia Abnormal cardiac septum morphology Abnormality of the skeletal system Optic disc pallor Prominent nasal bridge Postnatal growth retardation Neutropenia Delayed speech and language development Short nose Cryptorchidism Abnormal facial shape Short thumb Hypertension Conductive hearing impairment Small for gestational age Fever Hip dislocation Astigmatism Edema

Rare Symptoms - Less than 30% cases


Congestive heart failure Hypertrophic cardiomyopathy Proptosis Diabetes mellitus Thin upper lip vermilion Severe short stature Clinodactyly of the 5th finger Headache Leukemia Webbed neck Toe syndactyly Persistence of hemoglobin F Vertigo Abnormality of skin pigmentation Downslanted palpebral fissures Bone marrow hypocellularity Choanal atresia Recurrent urinary tract infections Telangiectasia Increased mean corpuscular volume Esophagitis Ectopic kidney Macrocytic anemia Abnormality of the hand Pancytopenia Upslanted palpebral fissure Hypoplasia of the radius Vesicoureteral reflux Hypothyroidism Pes planus Depressed nasal ridge Abnormality of cardiovascular system morphology Pulmonic stenosis Abnormality of the foot Long eyelashes Abnormality of the dentition Hypertrichosis Low posterior hairline Ventriculomegaly High, narrow palate Small hand Otitis media Myelodysplasia Low-set ears Wide intermamillary distance Delayed eruption of teeth Cataract Hypoplastic anemia Narrow palate Partial duplication of thumb phalanx Widely spaced teeth Acute myeloid leukemia Myeloid leukemia Absent thumb Pyloric stenosis Hyperactivity Vertebral fusion Aplastic anemia Intellectual disability, moderate Abnormality of the kidney Macrotia Decreased body weight Congenital diaphragmatic hernia Micropenis Weight loss Proteinuria Muscle weakness Low-grade fever Lethargy Hyperreflexia Wide nasal bridge Intellectual disability, severe Hypertonia Absent speech Encephalopathy Renal insufficiency Hernia Autism Delayed puberty Tetralogy of Fallot Patent ductus arteriosus Autistic behavior Pulmonary hypoplasia Behavioral abnormality Cardiomyopathy Anteverted nares Talipes equinovarus Optic atrophy Thick eyebrow Myopia Macrocephaly Hirsutism Microcytic anemia Depressed nasal bridge Downturned corners of mouth Highly arched eyebrow Feeding difficulties Ragged-red muscle fibers Syndactyly Respiratory tract infection Thin vermilion border Narrow mouth Camptodactyly Telecanthus Aggressive behavior Hypoglycemia Mitochondrial myopathy Gastroesophageal reflux Mandibular prognathia Craniosynostosis Brachycephaly Abnormality of the pinna Synophrys Hyperhidrosis Prominent forehead Pneumonia Increased serum ferritin Delayed skeletal maturation Inguinal hernia Clinodactyly Micromelia Abnormality of the preputium Projectile vomiting Pyridoxine-responsive sideroblastic anemia Abnormality of the thumb Abnormal aortic morphology Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the testis Erythroid hyperplasia Abnormality of the uterus Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Generalized limb muscle atrophy Hearing abnormality External ear malformation Abnormality of nervous system morphology Primary hypothyroidism Aplasia/Hypoplasia of fingers Prolonged G2 phase of cell cycle Stroke-like episode Distichiasis Sideroblastic anemia Aplasia/Hypoplasia of the uvula Tapered finger Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Abnormal carotid artery morphology Duodenal stenosis Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Meckel diverticulum Duplicated collecting system Single transverse palmar crease Increased serum lactate Sleep disturbance Pigmentary retinopathy Peters anomaly Hyperkeratosis Panhypopituitarism Arthritis Volvulus Recurrent hypoglycemia Thick upper lip vermilion Retinopathy Full cheeks Abnormality of retinal pigmentation Short sternum Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Aspiration pneumonia Aplasia/Hypoplasia of the radius Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Broad finger Congenital microcephaly Dislocated radial head Abnormality of the umbilicus Duplication of internal organs Hypertropia Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Perimembranous ventricular septal defect Hypoplastic radial head Dysplastic tricuspid valve Frequent falls Amblyopia Abnormality of visual evoked potentials Mild microcephaly Hypoplasia of the pons Supernumerary ribs Phocomelia Hand oligodactyly Generalized hirsutism Weak cry Exercise intolerance Blue sclerae Enlarged labia minora Low anterior hairline Muscular hypotonia Myopathy Aspiration Abnormality of metabolism/homeostasis Myoclonus Acidosis Renal hypoplasia High myopia Elbow flexion contracture Stroke Lactic acidosis Microdontia Left-to-right shunt Sepsis Progressive muscle weakness Triangular face EMG abnormality Renal cyst Microcornea Increased body weight Spontaneous abortion Abnormality of digit Clubbing Limited elbow extension Opisthotonus 2-3 toe syndactyly Short middle phalanx of finger Abnormality of dental enamel Osteolysis Cutis marmorata Tricuspid regurgitation Rheumatoid arthritis Telangiectasia of the skin Proximal placement of thumb Torticollis Juvenile rheumatoid arthritis Gingival fibromatosis Abnormal anterior chamber morphology Self-injurious behavior Angiokeratoma Axenfeld anomaly Short metatarsal Deep philtrum Incoordination Relative macrocephaly Irregular hyperpigmentation Multifocal epileptiform discharges Absent radius Flexion contracture Congenital glaucoma Delayed cranial suture closure Abnormal dermatoglyphics Hydrops fetalis Coarctation of aorta Premature birth Nausea Nausea and vomiting Narrow chest Fetal distress Thrombocytosis Cleft soft palate Acute leukemia Tracheomalacia Melanoma Mitral regurgitation Thick lower lip vermilion Ventricular hypertrophy Mitral valve prolapse Migraine Colon cancer Hypoplastic ilia Osteoporosis Hypoplastic coccygeal vertebrae Joint laxity Anxiety Hydronephrosis High forehead Pectus excavatum Depressivity Hypoplasia of the corpus callosum Cognitive impairment Hypoplastic sacral vertebrae Transient erythroblastopenia Osteosarcoma Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Anemia of inadequate production 11 pairs of ribs Bifid uvula Arrhythmia Protruding ear Nephroblastoma Diffuse mesangial sclerosis Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Glomerulopathy Focal segmental glomerulosclerosis Glomerulonephritis Uterus didelphys Glomerulosclerosis Primary amenorrhea Nephrotic syndrome Ambiguous genitalia Amenorrhea Abdominal distention Nephropathy Stage 5 chronic kidney disease Recurrent infections Respiratory insufficiency Ambiguous genitalia, female Streak ovary Macrogyria Hypsarrhythmia Oval face Dilated fourth ventricle Overlapping fingers Abnormally large globe Optic nerve hypoplasia Plagiocephaly Progressive microcephaly Hypohidrosis Postnatal microcephaly Epileptic encephalopathy Anuria Broad nasal tip Generalized tonic-clonic seizures Coloboma Muscular hypotonia of the trunk Cerebellar hypoplasia Spasticity Pain Gonadal tissue inappropriate for external genitalia or chromosomal sex Ovarian gonadoblastoma True hermaphroditism Feeding difficulties in infancy Blepharophimosis Abnormality of blood and blood-forming tissues Irritability Renal agenesis Lymphoma Hypopigmentation of the skin Bruising susceptibility Anal atresia Facial asymmetry Dolichocephaly Finger syndactyly Abnormality of the liver Abnormality of the eye Oligohydramnios Carcinoma Umbilical hernia Hypogonadism Microphthalmia Respiratory distress Frontal bossing Hepatomegaly Visual impairment Ataxia Hypotrophy of the small hand muscles Sloping forehead Short palpebral fissure Positional foot deformity Hypopigmented skin patches Multiple cafe-au-lait spots Hydroureter Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Hyperinsulinemia Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Aganglionic megacolon Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Abnormality of hair pigmentation Broad chin Scarring Focal-onset seizure Sacral dimple Narrow palpebral fissure Joint dislocation Heterotopia Open mouth Status epilepticus Hypotelorism Eczema Hip dysplasia Underdeveloped nasal alae Abnormality of the genitourinary system Everted lower lip vermilion Bulbous nose Joint hypermobility Long face Oral cleft Dry skin Arachnodactyly Poor speech Hypermetropia Broad forehead Bicuspid aortic valve Laryngomalacia Conspicuously happy disposition Spondylolisthesis Pear-shaped nose Narrow palm Expressive language delay Prominent fingertip pads Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Glioma Prominent metopic ridge Nasal speech Slender finger Abnormality of the sternum Long fingers Cortical dysplasia Impulsivity Overfolded helix Sparse eyebrow Elbow dislocation Aortic aneurysm Failure to thrive in infancy Chronic lactic acidosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Downturned corners of mouth, related diseases and genetic alterations Macrocephaly and Congenital cataract, related diseases and genetic alterations High palate and Migraine, related diseases and genetic alterations Cognitive impairment and Abnormality of mitochondrial metabolism, related diseases and genetic alterations

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