Motor delay, and Wide nose

Diseases related with Motor delay and Wide nose

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


Top matches:

High match NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY


Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY Is also known as n-acyl-l-amino acid amidohydrolase deficiency|acy1d

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

High match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1


MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

High match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

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Other less relevant matches:

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

High match ACROMELIC FRONTONASAL DYSOSTOSIS; AFND


Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

High match WIEDEMANN-STEINER SYNDROME


Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

High match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

High match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Wide nose

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Wide nose. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short nose

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Low-set ears Failure to thrive Short stature Abnormal facial shape Delayed speech and language development Wide nasal bridge Ptosis Downslanted palpebral fissures Long philtrum Growth delay Muscular hypotonia High forehead Prominent forehead Feeding difficulties Agenesis of corpus callosum Thin upper lip vermilion Hypoplasia of the corpus callosum High palate Cleft palate Depressed nasal bridge Neurological speech impairment Thin vermilion border Highly arched eyebrow Telecanthus Epicanthus Cryptorchidism Micrognathia Anteverted nares Delayed skeletal maturation Constipation Absence seizures Clinodactyly of the 5th finger Brachycephaly Hyperactivity Frontal bossing

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Inguinal hernia Clinodactyly Behavioral abnormality Ventriculomegaly Pectus excavatum Narrow mouth Postnatal growth retardation Macrotia Abnormal corpus callosum morphology Flat face Lipoma Heterotopia Sacral dimple Infantile muscular hypotonia Delayed gross motor development Polydactyly Long eyelashes Lissencephaly Hypertrichosis Thick eyebrow Abnormality of cardiovascular system morphology Neoplasm Short palpebral fissure Round face Dolichocephaly Abnormality of the pinna Short philtrum Tall stature Broad-based gait Upslanted palpebral fissure Muscle weakness Cerebellar atrophy Dilatation Muscular hypotonia of the trunk Intellectual disability, moderate Syringomyelia Scoliosis Short neck Hypoglycemia Joint laxity Strabismus Abnormal heart morphology Dysphagia Poor speech Smooth philtrum EEG abnormality Depressed nasal tip Recurrent aspiration pneumonia Uterine neoplasm Abnormality of the hand Abdominal wall muscle weakness Cavum septum pellucidum Bilateral ptosis Short middle phalanx of finger Narrow nasal bridge Narrow nose Deep palmar crease Abnormality of the elbow Broad philtrum Short attention span Accelerated skeletal maturation Thick upper lip vermilion Psychomotor deterioration Duodenal atresia Premature skin wrinkling Anteverted ears Asymmetry of the thorax Low frustration tolerance Congenital, generalized hypertrichosis Small forehead Infantile spasms Agyria Abnormal large intestine morphology Narrow palpebral fissure Synophrys Intellectual disability, mild Midline brain calcifications Type I lissencephaly Gastroesophageal reflux Ataxia Anxiety Aggressive behavior Neoplasm of the adrenal cortex Blepharophimosis Severe global developmental delay Abnormality of upper lip Facial asymmetry Hyperextensibility at elbow Pelvic kidney Hirsutism Decerebrate rigidity Tapered finger Webbed neck Growth hormone deficiency Stereotypy Rhizomelia Short toe Generalized hirsutism Finger clinodactyly Aplasia/Hypoplasia of the ribs Progressive spastic paraplegia Dilatation of renal calices Nephropathy Multiple lipomas Multiple cafe-au-lait spots Hamartoma Decreased fetal movement Narrow forehead Irregular hyperpigmentation Abnormality of the cardiovascular system Delayed eruption of teeth Single transverse palmar crease Hashimoto thyroiditis Capillary hemangioma Meningioma Cutis marmorata Arteriovenous malformation Abnormality of the optic nerve Angina pectoris Thyroid carcinoma Paraplegia Spastic paraplegia Intestinal polyposis Visceral angiomatosis Polyhydramnios Camptodactyly Neoplasm of the breast Omphalocele Pachygyria Hamartomatous polyposis Broad thumb Prominent occiput Elbow hypertrichosis Subcutaneous hemorrhage Spastic diplegia Skeletal muscle atrophy Abnormality of neuronal migration Macrocephaly Cataract Joint hyperflexibility Nevus Lymphoma Subcutaneous nodule Spastic gait Telangiectasia Deep philtrum Lymphedema Atrial septal defect Narrow palate Abnormality of metabolism/homeostasis Cachexia Joint contracture of the hand Posteriorly rotated ears Intracranial hemorrhage Cerebral cortical atrophy Aortic aneurysm Myopathy Absent fifth fingernail Vertical clivus Demyelinating peripheral neuropathy Abnormal cardiac septum morphology Abnormality of the foot Unsteady gait Distal sensory impairment Triangular face Sensory impairment Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Chronic constipation Midface retrusion Areflexia Hernia Micropenis Autism Attention deficit hyperactivity disorder Overgrowth Hypoplasia of penis Pointed chin Congenital hip dislocation Large for gestational age Disproportionate tall stature Spasticity Intellectual disability, severe Dystonia Gait ataxia Peripheral neuropathy Deeply set eye Hemiplegia Hearing impairment Sensorineural hearing impairment Vomiting Hypertonia Cerebral atrophy Encephalopathy Abnormality of the nervous system Apnea Inability to walk Generalized muscle weakness Febrile seizures Aplasia/Hypoplasia of the corpus callosum Opisthotonus Delayed thelarche Limb hypertonia Delayed CNS myelination Acute encephalopathy Aplasia/Hypoplasia of the cerebellar vermis Osteoporosis Delayed puberty Amenorrhea Primary amenorrhea Insulin resistance Ketoacidosis Maternal diabetes Hyperinsulinemic hypoglycemia Dorsocervical fat pad Absent speech Protruding ear Choroid plexus cyst Facial cleft Cleft lip Talipes Cleft upper lip Broad nasal tip Encephalocele Wide anterior fontanel Oligodontia Preaxial polydactyly Bilateral cryptorchidism Overlapping toe Bilateral talipes equinovarus Hypopituitarism Broad foot Syndactyly Widow's peak Upper airway obstruction Preaxial foot polydactyly Bifid nasal tip Thick nail Bifid nose Patellar hypoplasia U-Shaped upper lip vermilion Parietal foramina Frontal balding Large sella turcica Midline defect of the nose Retrocerebellar cyst Glaucoma Talipes equinovarus Small for gestational age Recurrent infections Downturned corners of mouth Bifid uvula Wide intermamillary distance Microretrognathia Widely spaced teeth Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Visual impairment Brachydactyly Coarse facial features Abnormality of the skeletal system Wide mouth Sparse hair Thick vermilion border Macroglossia Small nail Thick lower lip vermilion Sparse scalp hair Low anterior hairline Shortening of all distal phalanges of the fingers Aplasia/Hypoplasia of the distal phalanges of the hand Prominent interphalangeal joints Absent fifth toenail Myopia Bitemporal hollowing



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