Cleft palate, and Neonatal hypotonia

Diseases related with Cleft palate and Neonatal hypotonia

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


Top matches:

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 LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME


Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Medium 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

Medium match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA 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

Medium match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Medium match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Neonatal hypotonia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Feeding difficulties Muscular dystrophy Motor delay Hip dislocation Myopathy Facial palsy Generalized muscle weakness Intellectual disability Growth delay Failure to thrive High palate Hearing impairment

Rare Symptoms - Less than 30% cases


Minicore myopathy Cataract Central apnea Long fingers Arachnodactyly Short philtrum Camptodactyly of finger Microphthalmia Dysphagia Sensorineural hearing impairment Increased endomysial connective tissue Difficulty running Centrally nucleated skeletal muscle fibers Myopathic facies Congenital muscular dystrophy Arthrogryposis multiplex congenita Intrauterine growth retardation Micrognathia Respiratory distress Elevated serum creatine phosphokinase Pes planus Muscular hypotonia Pectus excavatum Spinal rigidity Severe muscular hypotonia Congenital hip dislocation Decreased fetal movement Areflexia Gastroesophageal reflux Respiratory insufficiency Talipes equinovarus Skeletal muscle atrophy Myopia Intellectual disability, severe Glaucoma Bulbar palsy Hyperactivity Low-set, posteriorly rotated ears Acidosis Abnormality of the cerebral white matter Poor speech Cardiomyopathy Visual impairment Ptosis Hypertelorism Cleft upper lip Polymicrogyria Gait disturbance Congenital cataract Hypermetropia Cleft lip Microcornea Cerebellar hypoplasia Dilatation Macroglossia Recurrent fractures Intellectual disability, profound Hydrocephalus Cerebellar vermis hypoplasia Encephalocele Pachygyria Heterotopia Lissencephaly Aplasia/Hypoplasia of the corpus callosum Congenital contracture Hypoplasia of the brainstem Skeletal muscle hypertrophy Hip dysplasia Microcephaly Ventriculomegaly Poor head control Megalocornea Soft skin Encephalopathy Hyporeflexia Respiratory failure Respiratory tract infection Paralysis Increased susceptibility to fractures Recurrent pneumonia Hyperextensible skin Nasal speech Mitral valve prolapse Restrictive ventilatory defect Increased connective tissue Corneal dystrophy Diaphragmatic paralysis Respiratory arrest Cutis laxa Abnormality of epiphysis morphology Blue sclerae Congenital glaucoma High myopia Retinal detachment Retinal atrophy Abnormality of the periventricular white matter Tented upper lip vermilion Keratoglobus Thick eyebrow Visual loss Hernia High, narrow palate Highly arched eyebrow Broad nasal tip Narrow forehead Abnormality of the dentition Sacral dimple Sclerocornea Inguinal hernia Dysphonia Spinal muscular atrophy Oral-pharyngeal dysphagia Flat cornea Corneal erosion Neonatal hypoglycemia Shoulder dislocation Broad eyebrow Edema Tented philtrum Submucous cleft soft palate Decreased corneal thickness Dolichocephaly Bruising susceptibility Camptodactyly Corneal scarring Joint hypermobility Hypoplasia of the pons Joint hyperflexibility Buphthalmos Peters anomaly Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Pulmonic stenosis Persistent pupillary membrane Feeding difficulties in infancy Myalgia Moderate myopia Abnormal facial shape Depressivity Conductive hearing impairment Umbilical hernia Babinski sign Retrognathia Hallux valgus Osteoporosis Hypoglycemia Keratoconus Mandibular condyle aplasia Stooped posture Congestive heart failure Spastic tetraparesis Leukoencephalopathy Ragged-red muscle fibers Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Dysplastic corpus callosum Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Ventricular septal defect Atrial septal defect Arrhythmia Cholestasis Abnormal cardiac septum morphology Dilated cardiomyopathy Webbed neck Knee flexion contracture Radioulnar synostosis Calf muscle hypertrophy Difficulty climbing stairs Ankle contracture Cleft soft palate Left ventricular noncompaction Abnormal levels of creatine kinase in blood Muscle stiffness Tetraparesis Downslanted palpebral fissures Spasticity Cryptorchidism Depressed nasal bridge Epicanthus Upslanted palpebral fissure Polydactyly Aggressive behavior Synophrys Postaxial polydactyly Metabolic acidosis Renal tubular acidosis Proximal renal tubular acidosis Hepatomegaly Bradykinesia Hypoplasia of the corpus callosum Dystonia Absent speech Hypospadias Elevated hepatic transaminase Developmental regression Irritability Ophthalmoplegia Lactic acidosis Hepatic steatosis Increased serum lactate Mitochondrial depletion Short neck Generalized limb muscle atrophy Fatigue Snoring Overfolding of the superior helices Speech articulation difficulties Temporomandibular joint ankylosis Hypoplastic superior helix Mandibular condyle hypoplasia Question mark ear Cleft at the superior portion of the pinna Cognitive impairment Fever Polyhydramnios Upper airway obstruction Kyphoscoliosis Proximal muscle weakness Hypertrophic cardiomyopathy Talipes Muscle cramps Limb-girdle muscular dystrophy Ophthalmoparesis Malignant hyperthermia Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Long penis Glossoptosis Behavioral abnormality Low-set ears Autistic behavior Coloboma Small for gestational age Severe global developmental delay Toe syndactyly Interphalangeal joint contracture of finger Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Macrocephaly Ankylosis Posteriorly rotated ears Narrow mouth Apnea Hirsutism Full cheeks Round face Dental malocclusion Dental crowding Preauricular skin tag Poor suck Cupped ear Abnormality of hair pigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Anteverted nares, related diseases and genetic alterations Immunodeficiency and Blue sclerae, related diseases and genetic alterations Immunodeficiency and Pectus excavatum, related diseases and genetic alterations Cardiomyopathy and Encephalitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more