Cleft palate, and Intrauterine growth retardation

Diseases related with Cleft palate and Intrauterine growth retardation

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


Top matches:

Medium match MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Medium match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Medium match NEU-LAXOVA SYNDROME 2; NLS2


Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

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Other less relevant matches:

Medium match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Medium match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS


Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Medium match SERKAL SYNDROME


SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Medium match DIAMOND-BLACKFAN ANEMIA 10; DBA10


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

Low match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Top 5 symptoms//phenotypes associated to Cleft palate and Intrauterine growth retardation

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Intrauterine growth retardation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Microphthalmia Renal cyst Scoliosis Decreased fetal movement Ventricular septal defect Global developmental delay

Rare Symptoms - Less than 30% cases


Short neck Edema Respiratory insufficiency Rocker bottom foot Upslanted palpebral fissure Seizures Flexion contracture Talipes equinovarus Hearing impairment Arthrogryposis multiplex congenita Short stature Dandy-Walker malformation Postaxial hand polydactyly Encephalocele Bowing of the long bones Occipital encephalocele Anencephaly Meningocele Bile duct proliferation Meningoencephalocele Anemia Cognitive impairment Congenital diaphragmatic hernia Neonatal hypotonia Abnormality of cardiovascular system morphology Broad neck Choanal atresia Atresia of the external auditory canal Microtia Ectopic kidney Macrocytic anemia Conductive hearing impairment Increased mean corpuscular volume Jaundice Failure to thrive Posteriorly rotated ears Hypoplasia of the bladder Oligohydramnios Pulmonary artery stenosis Sex reversal Abnormality of the adrenal glands Abnormality of the penis Ovotestis Bilateral lung agenesis Patent ductus arteriosus Malrotation of small bowel Adrenal gland agenesis Respiratory distress Malar flattening Midface retrusion Hernia Cleft soft palate Myopathy Reticulocytopenia Spinal rigidity Muscle cramps Generalized muscle weakness Congenital hip dislocation Limb-girdle muscular dystrophy Ophthalmoparesis Myopathic facies Centrally nucleated skeletal muscle fibers Muscular dystrophy Malignant hyperthermia Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Talipes Hip dislocation Mandibulofacial dysostosis Fatigue Generalized hypotonia Muscle weakness Feeding difficulties Motor delay Fever Skeletal muscle atrophy Cardiomyopathy Facial palsy Pulmonary hypoplasia Areflexia Polyhydramnios Kyphoscoliosis Pes planus Proximal muscle weakness Hypertrophic cardiomyopathy Renal agenesis Prominent occiput Oral cleft Elevated serum creatinine Molar tooth sign on MRI Renal dysplasia Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum Abnormal cortical gyration Depressed nasal ridge Sloping forehead Ichthyosis Abnormality of the pinna Proptosis High palate Hypertelorism Velopharyngeal insufficiency Gout Sensorineural hearing impairment Hyperuricemia Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Bifid uvula Neutropenia Hematuria Nephropathy Postnatal growth retardation Abnormality of the kidney Proteinuria Recurrent infections Dilatation Hypertension Agenesis of cerebellar vermis Cryptorchidism Pulmonic stenosis Spina bifida occulta Cleft lip Hypospadias Cutaneous photosensitivity Brain atrophy Congenital cataract Cerebellar hypoplasia Ventriculomegaly Cataract Posterior rib fusion Abnormal sacrum morphology Abnormality of female internal genitalia Missing ribs Vertebral segmentation defect Short thorax Abnormality of the ribs Depressed nasal bridge Metabolic acidosis Epicanthus Hyperactivity Acidosis Aggressive behavior Synophrys Poor speech Renal tubular acidosis Hyperlordosis Proximal renal tubular acidosis Wide nasal bridge Macrocephaly Anteverted nares Recurrent respiratory infections Severe short stature Minicore myopathy



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