Motor delay, and Nail dysplasia

Diseases related with Motor delay and Nail dysplasia

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


Top matches:

Low 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

Low match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

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Other less relevant matches:

Low match DPM1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Low match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Low match RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY


Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Related symptoms:

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION


Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Low match REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Nail dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Motor delay and Nail dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Nystagmus Strabismus Generalized hypotonia Muscular hypotonia Epicanthus High, narrow palate Intrauterine growth retardation High palate Macrotia Ventriculomegaly Feeding difficulties Ataxia Hypertelorism Delayed speech and language development Myopia Micrognathia Downslanted palpebral fissures Ptosis Anteverted nares Gastroesophageal reflux Short neck Sparse hair Recurrent infections Postnatal growth retardation Absent speech Long philtrum Cerebellar hypoplasia Osteopenia Proptosis Anemia Abnormality of the dentition Protruding ear Fragile nails Short stature Depressed nasal bridge Pointed chin Prominent supraorbital ridges Edema Macrocephaly

Rare Symptoms - Less than 30% cases


Renal cyst Short nose Respiratory distress Patent ductus arteriosus Talipes equinovarus Oral leukoplakia Cerebral atrophy EEG abnormality Malar flattening Midface retrusion Immunodeficiency Aplastic anemia Obesity Severe short stature Myopathy Osteoporosis Hepatomegaly Respiratory failure Kyphoscoliosis Joint laxity Hypertension Smooth philtrum Bone marrow hypocellularity Failure to thrive Broad femoral neck Deep-set nails Hemangioma Apnea Short chin Full cheeks Vesicoureteral reflux Broad-based gait Long eyelashes Chronic diarrhea Lymphedema Hypoplastic toenails Thick vermilion border Neoplasm Abnormality of the skeletal system Carcinoma Overgrowth Hyperpigmentation of the skin Large for gestational age Neonatal hypoglycemia Sleep disturbance Hypermetropia Retinopathy Cognitive impairment Dental malocclusion Progressive neurologic deterioration Cerebral visual impairment Deep palmar crease Poor suck Weak cry Ventricular septal defect Dolichocephaly Atrial septal defect Nail dystrophy Intellectual disability, mild Umbilical hernia Intellectual disability, moderate Irritability Abnormality of the pinna Abnormal facial shape Diarrhea Kyphosis Brachydactyly Flexion contracture Optic atrophy Tetraplegia Eczema Coarse facial features Abnormality of the genital system Renal dysplasia Cerebral cortical atrophy Inguinal hernia Hip dysplasia Hearing impairment Low-set ears Tremor Cryptorchidism Hyperactivity Bulbous nose Joint hypermobility Autistic behavior Anxiety Deeply set eye Dysphagia Prominent forehead Constipation Cerebellar atrophy Agenesis of corpus callosum Pectus excavatum Microretrognathia Intellectual disability, severe Toenail dysplasia Synophrys Severe global developmental delay Hirsutism Flat occiput Neonatal hypotonia Sacral dimple Neurodevelopmental delay Hyperhidrosis Hypogonadism Hyperkeratosis Rocker bottom foot Tricuspid regurgitation Bilateral cryptorchidism Heart murmur Hyperglycemia Keratoconus Polyhydramnios Hypoglycemia Pleural effusion Aortic aneurysm Failure to thrive in infancy Redundant skin Reduced subcutaneous adipose tissue Astigmatism Curly hair Central hypotonia Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Hernia Arrhythmia Arnold-Chiari type I malformation Syringomyelia Abnormal heart morphology Posteriorly rotated ears Tracheomalacia Generalized hyperpigmentation Delayed skeletal maturation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Pes cavus Hyperextensible skin Pyloric stenosis Relative macrocephaly Laryngomalacia Nevus Feeding difficulties in infancy Wide mouth Pectus carinatum Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Arthrogryposis multiplex congenita Sepsis Apraxia Pulmonic stenosis Macroglossia Ascites Delayed puberty Postural instability Joint hyperflexibility Hematuria Wide nose Mitral valve prolapse Epidermal acanthosis Tachycardia Narrow palate Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the nervous system Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Abnormality of the fingernails Abnormality of dental enamel Hoarse voice Thick lower lip vermilion Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Wide anterior fontanel Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Decreased body weight Hypoplasia of dental enamel Atrial fibrillation Prominent protruding coccyx Achilles tendon contracture Thickened nuchal skin fold Congenital neuroblastoma Thrombocytopenia Esophageal stenosis Esophageal stricture Spasticity Pancytopenia Visual impairment Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Lymphangiectasis Neutropenia Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Pneumonia Recurrent otitis media Multifocal atrial tachycardia Hypertonia Exudative retinopathy Reticulated skin pigmentation Leukocoria Ridged fingernail Nail pits Megalocornea Purpura Fine hair Cerebral calcification Abnormality of metabolism/homeostasis Abnormality of the palpebral fissures Recurrent bacterial infections Abnormality of the hairline Abdominal wall muscle weakness Moderate global developmental delay Hemihypertrophy Hyperinsulinemic hypoglycemia Multiple renal cysts Plagiocephaly Craniosynostosis Myelofibrosis Myelodysplasia Neonatal sepsis Embryonal rhabdomyosarcoma Megalencephaly Redundant neck skin Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Hypospadias Labial hypoplasia Abnormality of the testis Schwannoma Lack of skin elasticity Central apnea Verrucae Large forehead Renal insufficiency Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Rhabdomyosarcoma Abnormality of earlobe Vestibular Schwannoma Abnormal pulmonary valve morphology Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Bladder neoplasm Limited elbow movement Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Abnormality of cardiovascular system morphology Periorbital fullness Cardiomyopathy Flat acetabular roof Long upper lip Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Irregular vertebral endplates Multiple joint dislocation Protuberant abdomen Cystic hygroma Congenital glaucoma Thoracic hypoplasia Short femoral neck Metaphyseal widening Abnormality of the hand Short metatarsal Genu varum Advanced ossification of carpal bones Large joint dislocations Sandal gap Long face Camptodactyly Abnormality of the eye Elevated hepatic transaminase Thin upper lip vermilion Gait ataxia Elevated serum creatine phosphokinase Attention deficit hyperactivity disorder Splenomegaly Abnormality of eye movement Broad nasal tip Bifid distal phalanx of the thumb Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Disproportionate short-limb short stature Coxa vara Prominent nasal bridge Aplasia cutis congenita High forehead Narrow mouth Delayed gross motor development Glaucoma Chronic otitis media Oral-pharyngeal dysphagia Clinodactyly Spastic diplegia Dilatation Depressed nasal tip Pes planus Gait imbalance Thickened helices Nasolacrimal duct obstruction Short digit Sleep-wake cycle disturbance Caesarian section Prominent coccyx Thickened ears Broad chin Abnormality of the septum pellucidum Skeletal dysplasia Arthritis Joint dislocation Short metacarpal Coxa valga Horseshoe kidney Rhizomelia Broad thumb Bowing of the long bones Osteoarthritis Depressed nasal ridge Wide intermamillary distance Waddling gait Round face Reduced tendon reflexes Abdominal distention Cerebellar vermis hypoplasia Short distal phalanx of finger Flat face Micromelia Narrow chest Platyspondyly Joint stiffness Hyperlordosis Abnormality of the kidney Abnormal pyramidal sign Muscular dystrophy Hydrocephalus Tall stature Recurrent skin infections Poor head control Increased intracranial pressure Abnormality of the outer ear Accelerated skeletal maturation Tapered finger Multicystic kidney dysplasia Hypohidrosis Dental crowding Spastic tetraplegia Polycystic kidney dysplasia Nephrolithiasis Hepatitis Low anterior hairline Generalized hirsutism Intellectual disability, progressive Lissencephaly Thick eyebrow Hepatic failure Unsteady gait Facial asymmetry Recurrent upper respiratory tract infections Large hands Renal hypoplasia/aplasia Episodic vomiting Respiratory insufficiency Frontal bossing Dysarthria Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Talipes cavus equinovarus 2-3 toe syndactyly Delayed CNS myelination Concave nasal ridge Heat intolerance Bruxism Arachnoid cyst Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Poor eye contact Cellulitis Nausea and vomiting Overlapping toe Dysmetria Venous thrombosis Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Ankle contracture Lower limb hyperreflexia Increased variability in muscle fiber diameter Trigonocephaly Hypoplasia of the corpus callosum Abnormality of vision Knee flexion contracture Type I transferrin isoform profile Truncal ataxia Dystonia Decreased liver function Telangiectasia Postnatal microcephaly Intention tremor Febrile seizures Delayed myelination Small hand Short palm Abnormal myelination Pontocerebellar atrophy Abnormality of the hip bone Limb joint contracture Infantile spasms Abnormally large globe Aggressive behavior Hydronephrosis Abnormal hair pattern Autism Clinodactyly of the 5th finger Hyporeflexia Headache Behavioral abnormality Hypoglycosylation of alpha-dystroglycan Broad alveolar ridges Hyperconvex nail Vomiting Gait disturbance Wide nasal bridge Pain Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Fine, reticulate skin pigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypodontia, related diseases and genetic alterations

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