Cleft palate, and Jaundice

Diseases related with Cleft palate and Jaundice

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

Top matches:

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).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Other less relevant matches:

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

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

Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COHEN-GIBSON SYNDROME; COGIS

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Patent ductus arteriosus Hypothyroidism Hearing impairment Muscular hypotonia Epicanthus Micrognathia Failure to thrive Low-set ears Single transverse palmar crease Malar flattening Umbilical hernia Growth delay Intrauterine growth retardation Cataract Large fontanelles Ventricular septal defect Hypertelorism Feeding difficulties Deeply set eye Abnormality of the kidney Abnormal heart morphology Macroglossia Depressed nasal bridge Abdominal distention Camptodactyly Prolonged neonatal jaundice Prominent nose Abnormality of the face Palpebral edema Hernia Abnormal facial shape Feeding difficulties in infancy Abnormality of the skeletal system Posteriorly rotated ears Respiratory distress Poor suck Depressivity Atrial septal defect Intellectual disability, severe Osteopenia Polymicrogyria Constipation Microcephaly Hypogonadism Hepatomegaly

Rare Symptoms - Less than 30% cases

Delayed skeletal maturation Fatigue Anteverted nares Stippled chondral calcification Hydronephrosis Sensorineural hearing impairment Strabismus Micropenis Abnormality of the pinna Dolichocephaly Postnatal growth retardation Apnea Intrahepatic biliary dysgenesis Pneumonia Oral cleft Agenesis of corpus callosum Septo-optic dysplasia Astigmatism Small nail Joint laxity Retrognathia Macrotia Hypoplasia of the corpus callosum Downslanted palpebral fissures Myopia Wide nasal bridge Flexion contracture Ptosis Scoliosis Large hands Patellar dislocation Long foot Polydactyly Anxiety Congenital hypothyroidism Coarse facial features Optic nerve dysplasia Sleep disturbance Central hypothyroidism Hydroureter Brachydactyly Depressed nasal ridge Hypotension Growth hormone deficiency Severe short stature Abnormality of the eye Hypoglycemia Bifid uvula Brushfield spots Bulbous nose Splenomegaly High forehead Areflexia Talipes equinovarus Broad neck Abnormality of the dentition Coarctation of aorta Capillary hemangioma Congenital diaphragmatic hernia Enlarged kidney Proptosis Polyhydramnios Abnormality of the helix Heterotopia Overgrowth Premature birth Abnormality of the urinary system Sparse and thin eyebrow Microtia Dry skin Opacification of the corneal stroma Cubitus valgus Respiratory insufficiency Midface retrusion Clitoral hypertrophy Pigmentary retinopathy Metatarsus adductus Renal cyst Round face Anemia Intellectual disability, moderate Epileptic spasms Pes planus Autoimmunity Respiratory tract infection Protruding ear Paralysis Submucous cleft hard palate Decreased antibody level in blood Otitis media Coloboma Visual loss Abnormal cardiac septum morphology Anal atresia Malabsorption Disproportionate short stature Cortical gyral simplification Femoral bowing Intestinal malrotation Long nose Highly arched eyebrow Partial agenesis of the corpus callosum Hemolytic anemia Severe intrauterine growth retardation Hip contracture Broad palm Osteomalacia Short humerus Dental malocclusion Wide nose Joint hypermobility Hypodontia Hirsutism Hypoplasia of the frontal lobes Clinodactyly Abnormality of the tragus Cleft vertebral arch Absent knee epiphyses Tethered cord Enlarged metaphyses Aplastic clavicle Long clavicles Bowed humerus Bifid femur Abnormally ossified vertebrae Abnormality of the upper urinary tract Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the intervertebral disk Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Large iliac wings Aplasia/hypoplasia of the femur Small anterior fontanelle Broad distal phalanx of finger Thin eyebrow Hypospadias Short femur Arachnoid cyst Obesity Thickened nuchal skin fold Recurrent infections Delayed epiphyseal ossification Immunodeficiency Abnormality of finger Renal insufficiency Flat acetabular roof Kyphosis Colpocephaly Intellectual disability, mild Diarrhea High palate Hypoplastic ilia Abnormal cortical gyration 11 pairs of ribs Agenesis of cerebellar vermis Profound global developmental delay Bifid first metacarpal Dilatation Short columella Microdontia Pilonidal sinus Abnormality of epiphysis morphology Nephrolithiasis Paresthesia Arrhythmia Optic atrophy Hypertension Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Short nasal septum Abnormality of the hair Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Sinusitis Reduced tendon reflexes Abnormality of the middle ear Primary hypothyroidism Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Angiokeratoma corporis diffusum Thyroid agenesis Abnormal pericardium morphology Ectopic thyroid Hoarse cry Increased thyroid-stimulating hormone level Thyroid hypoplasia Pseudohypoparathyroidism Oligodontia Anterior hypopituitarism Hypothermia Abnormal eyelid morphology Abnormality of the thyroid gland Tracheoesophageal fistula Intestinal obstruction Growth abnormality Abnormality of vision Goiter Anosmia Epibulbar dermoid Recurrent aspiration pneumonia Blue sclerae Failure to thrive in infancy Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Abnormal dermatoglyphics Cerebellar vermis atrophy Purpura Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Recurrent otitis media Transposition of the great arteries Autoimmune hemolytic anemia Prominent fingertip pads Optic nerve coloboma Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Mitral stenosis Thyroiditis Retinal coloboma Short 5th finger Depressed nasal tip Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Anal stenosis Autoimmune thrombocytopenia IgA deficiency Prominent occiput Hypertonia Multiple joint contractures Pulmonic stenosis Hypogonadotrophic hypogonadism Hoarse voice Aspiration Amenorrhea Decreased testicular size Ascites Infertility Delayed puberty Severe global developmental delay Optic nerve hypoplasia Prominent forehead Short nose Edema Frontal bossing Elevated long chain fatty acids Abnormality of the mitochondrion Hypoplasia of the thymus Turricephaly Polycystic kidney dysplasia Holoprosencephaly Adrenal insufficiency Aminoaciduria Anterior pituitary hypoplasia Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Ectopic posterior pituitary Decreased circulating ACTH level Median cleft lip and palate Absence of secondary sex characteristics Delayed cranial suture closure Pituitary hypothyroidism Concave nasal ridge Short attention span Aspiration pneumonia Severe postnatal growth retardation Hypopituitarism Absent septum pellucidum Abnormality of digit Hypoplastic left heart Intellectual disability, progressive Joint contracture of the hand Anterior pituitary agenesis Mandibular prognathia Abnormality of the ureter Large for gestational age Nephroblastoma Abnormality of the outer ear Cardiomegaly Full cheeks Hematuria Facial asymmetry Synophrys Brachycephaly Nevus flammeus Mandibulofacial dysostosis Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Macrocytic anemia Ectopic kidney Atresia of the external auditory canal Choanal atresia Conductive hearing impairment Neonatal hypoglycemia Abnormal eyebrow morphology Developmental regression Hepatosplenomegaly Acidosis Upslanted palpebral fissure Abnormality of cardiovascular system morphology Nystagmus Renal cortical microcysts Macrogyria Generalized neonatal hypotonia Epiphyseal stippling Flat face Congenital megaureter Diastasis recti Auricular pit Posterior helix pit Hemifacial hypertrophy Anterior creases of earlobe Asymmetry of the thorax Abdominal wall defect Visceromegaly Hemihypertrophy Mild global developmental delay Osteoporosis of vertebrae Ectopic anterior pituitary gland Diabetes insipidus Short palm Oligohydramnios Sloping forehead Limb undergrowth Tetralogy of Fallot Specific learning disability Short metacarpal Delayed myelination Thick vermilion border Micromelia Status epilepticus Hypotrichosis Platyspondyly Hip dislocation Small for gestational age Corneal opacity Sparse hair Muscular hypotonia of the trunk Abnormality of the nervous system Rigidity Hypsarrhythmia Renal hypoplasia Dyspnea Knee flexion contracture Rickets Elbow dislocation Preaxial polydactyly Abnormality of the metacarpal bones Sacral dimple Lissencephaly Sparse eyelashes Absence seizures Short chin Muscle stiffness Cerebellar vermis hypoplasia Bilateral single transverse palmar creases Elbow flexion contracture Short thumb Bowing of the long bones Pachygyria Abnormality of the metaphysis Abnormal form of the vertebral bodies Sparse scalp hair Fine hair Skeletal dysplasia Hyperkeratosis Delayed speech and language development Wide intermamillary distance Melanocytic nevus Metaphyseal widening Hemangioma Accelerated skeletal maturation Coxa valga Exotropia Tall stature Broad thumb Mitral regurgitation Nevus Slender finger Thick eyebrow Arachnodactyly Poor speech Broad forehead Prominent nasal bridge Difficulty walking Long philtrum Gait disturbance Macrocephaly Long fingers Tracheomalacia Respiratory failure Spasticity Glaucoma Osteoporosis Cerebellar hypoplasia Alopecia Clinodactyly of the 5th finger Cerebral atrophy Short neck Fever Cognitive impairment Abnormality of the hypothalamus-pituitary axis Poor coordination Spinal instability Narrow foot Hamstring contractures Hyperopic astigmatism Long ear Thin nail Broad face Hypoplastic iliac wing Spinal cord compression Abnormality of reproductive system physiology


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