Motor delay, and Renal hypoplasia

Diseases related with Motor delay and Renal hypoplasia

In the following list you will find some of the most common rare diseases related to Motor delay and Renal hypoplasia that can help you solving undiagnosed cases.


Top matches:

Medium match MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Medium match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED


CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

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Other less relevant matches:

Medium match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Medium match MICROPHTHALMIA, LENZ TYPE


Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Medium match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Medium match CAYLER CARDIOFACIAL SYNDROME


CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Medium match BILATERAL GENERALIZED POLYMICROGYRIA


BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Medium match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Renal hypoplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Renal hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Low-set ears Flexion contracture Growth delay Scoliosis Strabismus Vesicoureteral reflux Inguinal hernia Intellectual disability, severe Renal dysplasia Intrauterine growth retardation Attention deficit hyperactivity disorder Agenesis of corpus callosum Abnormal facial shape Hyperactivity Hypertelorism Hypospadias High palate Hydronephrosis Abnormality of the skeletal system Abnormality of cardiovascular system morphology Cerebellar hypoplasia Anteverted nares Renal hypoplasia/aplasia Microphthalmia Abnormality of the urinary system Hypoplasia of the corpus callosum Dilatation Cleft palate Thin upper lip vermilion Facial asymmetry Poor speech Pectus excavatum Oligohydramnios Visual impairment High, narrow palate Pyloric stenosis Ectopic kidney Aggressive behavior Feeding difficulties Muscular hypotonia Hypertension Kyphoscoliosis Narrow mouth Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases


Prominent supraorbital ridges Narrow chest Toe syndactyly Polymicrogyria Hydrocephalus Coxa valga Spasticity Polydactyly Craniosynostosis Hernia Prominent forehead Delayed eruption of teeth Aplasia/Hypoplasia of the corpus callosum Wide anterior fontanel Hyperlordosis Retrognathia Cerebellar atrophy Hydroureter Interphalangeal joint contracture of finger Arachnodactyly Camptodactyly of finger Blepharophimosis Respiratory tract infection Joint contracture of the hand Abnormality of the pinna Camptodactyly Limb joint contracture Overfolded helix Severe short stature Kyphosis Small face Talipes equinovarus Ventricular septal defect Ptosis Micrognathia Nystagmus Clinodactyly of the 5th finger Absent septum pellucidum Obsessive-compulsive behavior Ventriculomegaly Lissencephaly Frontal bossing Postnatal growth retardation Abnormal cardiac septum morphology Autistic behavior Abnormality of the kidney Autism Respiratory insufficiency Wide nasal bridge Epicanthus Short clavicles Hip dislocation Pes planus Peripheral demyelination Misalignment of teeth Short distal phalanx of finger Pain Hyperechogenic kidneys Recurrent respiratory infections Abnormal heart morphology Spastic tetraparesis Tetraparesis Atrial septal defect Severe global developmental delay Neurological speech impairment Absent speech Blindness Joint hyperflexibility Micropenis Long face Recurrent otitis media Spina bifida occulta Spina bifida Preauricular skin tag Tetralogy of Fallot Recurrent urinary tract infections Renal agenesis Bowing of the long bones Congenital contracture Prune belly Mitral valve prolapse Macrotia Proptosis Tricuspid valve prolapse Abnormality of the ribs Pulmonary arterial hypertension Ureteral stenosis Coarse hair Anisospondyly Urethral atresia Pneumonia Ureteral obstruction Omphalocele Megacystis Hypoplastic facial bones Frontal hirsutism Osteoarthritis Abnormality of the metaphysis Abnormality of the pubic bone Long neck High forehead Growth hormone deficiency Hypoplastic pelvis Long fingers Short thorax Limited elbow extension Delayed cranial suture closure Tibial bowing Atrioventricular canal defect Short humerus Cone-shaped epiphyses of the phalanges of the hand Full cheeks Hypoplastic scapulae Osteolytic defects of the phalanges of the hand Genu valgum Sclerosis of skull base Hoarse voice Abnormal cortical bone morphology Pulmonic stenosis Thoracic hypoplasia Nevus Flared metaphysis Intestinal malrotation Craniofacial hyperostosis Conductive hearing impairment Melanocytic nevus Complete atrioventricular canal defect Skeletal dysplasia Obtuse angle of mandible Bowel incontinence Anterior concavity of thoracic vertebrae Severe failure to thrive Short corpus callosum Gray matter heterotopias Abnormality of the spinal cord Abnormal corpus callosum morphology Duodenal atresia Cardiorespiratory arrest Multiple joint contractures Cerebral cortical atrophy Mild short stature Unilateral renal agenesis Heterotopia Pachygyria Sloping forehead Abnormal pyramidal sign Intellectual disability, moderate Optic atrophy Coarse facial features Dysarthria Generalized hirsutism Broad alveolar ridges Abnormal hair pattern Abnormally large globe Infantile spasms Abnormality of the hip bone Overlapping toe Intellectual disability, progressive Low anterior hairline Neonatal hypotonia Abnormality of the genital system Spastic tetraplegia Tetraplegia Tapered finger Hirsutism Synophrys Protruding ear EEG abnormality Asymmetric crying face Neoplasm Prominent nasal bridge Choanal atresia Underdeveloped nasal alae Premature birth Highly arched eyebrow Short palm Smooth philtrum Facial palsy Congenital hip dislocation Deeply set eye Patent ductus arteriosus Depressivity Immunodeficiency Malar flattening Behavioral abnormality Sensorineural hearing impairment Pointed chin Oculomotor apraxia Dermoid cyst Truncus arteriosus Branchial fistula Body odor Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Ulnar deviation of finger Sandal gap Ciliary body coloboma Preauricular pit Cupped ear Language impairment Aortic aneurysm Hemangioma Aortic regurgitation Gait disturbance Zollinger-Ellison syndrome Agenesis of maxillary lateral incisor Short chin Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Cutis marmorata Sparse eyebrow Pigmentary retinopathy Metopic synostosis Overgrowth Hip dysplasia Urinary incontinence Thin vermilion border Broad forehead Retinopathy Broad face Ureterocele Upslanted palpebral fissure Posteriorly rotated ears Talipes Arthrogryposis multiplex congenita Muscular dystrophy Pectus carinatum Joint stiffness Polyhydramnios Areflexia Intraventricular hemorrhage Long philtrum Myopathy Short neck Skeletal muscle atrophy Partial absence of the septum pellucidum Craniofacial asymmetry Jaundice Short nose Dandy-Walker malformation Small for gestational age Renal insufficiency Delayed speech and language development Abnormal renal corticomedullary differentiation Elevated serum creatinine Progressive muscle weakness Polyneuropathy Respiratory distress Microtia Muscle weakness Small cerebral cortex Cortical gyral simplification Optic nerve hypoplasia Delayed gross motor development Abnormality of the foot Abnormality of the nervous system Stage 5 chronic kidney disease Hypertonia Hypoplastic helices Downslanted palpebral fissures Macrocephaly Cognitive impairment Decreased numbers of nephrons Bifid ureter Urethral valve Uterus didelphys Ambiguous genitalia Anteverted ears Thickened helices Poor eye contact Deep philtrum Chronic kidney disease Horseshoe kidney Narrow face Bifid uvula Specific learning disability Abnormal palmar dermatoglyphics Dental crowding Proximal placement of thumb Clubbing Chorioretinal coloboma Self-injurious behavior Bicuspid aortic valve Muscle stiffness Aganglionic megacolon Anophthalmia Lumbar hyperlordosis Wide intermamillary distance Webbed neck Brain atrophy Microcornea Iris coloboma Abnormality of dental morphology Radial deviation of finger Oral cleft Optic nerve coloboma Complete duplication of thumb phalanx Long thorax Abnormality of the shoulder Ankyloblepharon Rectal prolapse Shield chest Sclerocornea Bilateral cryptorchidism Down-sloping shoulders Abnormality of the clavicle Self-mutilation External ear malformation Agenesis of permanent teeth Spastic diplegia Cleft upper lip Anal atresia Short palpebral fissure Mask-like facies Restlessness Submucous cleft hard palate Abnormality of the sternum Decreased muscle mass Dextrocardia Metatarsus adductus Hypoplasia of the brainstem Colpocephaly Myotonia Radioulnar synostosis Multicystic kidney dysplasia Situs inversus totalis Abnormality of the face Abnormal form of the vertebral bodies Distal arthrogryposis Abnormality of the upper urinary tract Finger syndactyly Cataract Coloboma Low-set, posteriorly rotated ears Glaucoma Clinodactyly Syndactyly Abnormality of the dentition Abnormal anatomic location of the heart Primitive reflex Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Epispadias Hyperconvex nail



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