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 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 dyskeratosis congenita, autosomal dominant 5;dkca5, exudative retinopathy with bone marrow failure;dyskeratosis congenita with bilateral exudative retinopathy; retinopathy-anemia-central nervous system anomalies syndrome; revesz-debuse syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: MONDO ORPHANET OMIM DOID UMLS MESH SCTID GARD

More info about REVESZ SYNDROME

Low match CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA

Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype (Proud et al., 1992). Proud syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome to infantile spasms without brain malformations (EIEE1 ) to syndromic (OMIM ) and nonsyndromic (OMIM ) mental retardation (Kato et al., 2004; Wallerstein et al., 2008).

CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA Is also known as acc with abnormal genitalia, proud syndrome;acc-abnormal genitalia syndrome; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; proud syndrome; proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MONDO GARD UMLS MESH OMIM ORPHANET

More info about CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA

Low match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM UMLS ORPHANET MONDO

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

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Other less relevant matches:

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID

More info about GILLESPIE SYNDROME; GLSP

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K

CDG2K is an autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern (summary by Foulquier et al., 2012).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K Is also known as cdg iik;cdgiik;cdg syndrome type iik; cdg-iik; cdg2k; carbohydrate deficient glycoprotein syndrome type iik; congenital disorder of glycosylation type 2k; congenital disorder of glycosylation type iik

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID UMLS OMIM ORPHANET MONDO GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33

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).

MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 Is also known as ;

Related symptoms:

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


SOURCES: UMLS ORPHANET OMIM MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E Is also known as cdg ie;cdgie;cdg syndrome type ie; cdg-ie; cdg1e; carbohydrate deficient glycoprotein syndrome type ie; congenital disorder of glycosylation type 1e; congenital disorder of glycosylation type ie; dol-p-mannosyltransferase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT SCTID ORPHANET MONDO GARD UMLS OMIM MESH

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

Low match MICROPHTHALMIA, SYNDROMIC 6; MCOPS6

gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 Is also known as microphthalmia and pituitary anomalies, microphthalmia with brain and digit developmental anomalies, anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia;bakrania-ragge syndrome; mcops6; syndromic microphthalmia type 6

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: UMLS MONDO OMIM ORPHANET SCTID GARD MESH

More info about MICROPHTHALMIA, SYNDROMIC 6; MCOPS6

Low match FRANK-TER HAAR SYNDROME; FTHS

The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004).Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014).

FRANK-TER HAAR SYNDROME; FTHS Is also known as ter haar syndrome, borrone dermatocardioskeletal syndrome, melnick-needles syndrome, autosomal recessive, formerly;ter haar syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM ORPHANET MONDO MESH SCTID GARD UMLS

More info about FRANK-TER HAAR SYNDROME; FTHS

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;22q13 deletion; phelan-mcdermid syndrome

Related symptoms:

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


SOURCES: UMLS MONDO OMIM ORPHANET GARD SCTID MESH

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

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

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Microcephaly Strabismus Protruding ear Flexion contracture Scoliosis Autosomal recessive inheritance Cerebellar hypoplasia High, narrow palate High palate Absent speech Hearing impairment Ataxia Low-set ears Autosomal dominant inheritance Corneal opacity Osteoporosis Prominent supraorbital ridges Hirsutism Muscular hypotonia Facial asymmetry Ptosis Ventriculomegaly Clinodactyly of the 5th finger Dental malocclusion Micrognathia Flat occiput Macrotia Prominent forehead Hypertelorism Anteverted nares Toenail dysplasia Sacral dimple Malar flattening Long philtrum Failure to thrive Cerebellar atrophy Tremor Synophrys Deeply set eye Optic atrophy Cerebral cortical atrophy Agenesis of corpus callosum Sparse hair Short stature Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Retinopathy Proptosis Intellectual disability, mild Cerebral atrophy Coarse facial features Gait ataxia Hypoplasia of the corpus callosum Constipation Coloboma Pectus excavatum Mandibular prognathia Concave nasal ridge Osteopenia Gastroesophageal reflux Nevus Cataract Pica Cryptorchidism Sporadic Autistic behavior Bulbous nose Broad nasal tip Hip dysplasia Microretrognathia Pointed chin Oral leukoplakia Kyphosis Unsteady gait Hepatomegaly Ventricular septal defect Kyphoscoliosis Elevated hepatic transaminase Oxycephaly Posteriorly rotated ears Elevated serum creatine phosphokinase Postnatal microcephaly Midface retrusion Wide nasal bridge Abnormality of the skeletal system Splenomegaly Macrocephaly Umbilical hernia Hyperactivity Progressive neurologic deterioration Abnormal facial shape Megalocornea Beaking of vertebral bodies Thick vermilion border Full cheeks Fine hair Anterior pituitary hypoplasia Delayed speech and language development Myopia Nail dystrophy Delayed CNS myelination Single transverse palmar crease Skeletal dysplasia Papilloma Patent ductus arteriosus Smooth philtrum High forehead Depressed nasal bridge Feeding difficulties Brachycephaly Hyperconvex nail Broad alveolar ridges Sensorineural hearing impairment Abnormally large globe Brachydactyly EEG abnormality Visual impairment Joint laxity Short palm Pain Severe short stature Abnormality of the dentition Thickened skin Osteolysis Camptodactyly Severe global developmental delay Prominent coccyx Hypospadias Cortical visual impairment Renal dysplasia Low anterior hairline Inguinal hernia Intrauterine growth retardation Neonatal hypotonia Febrile seizures Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Lower limb hyperreflexia Lambdoidal craniosynostosis Abnormality of the cervical spine Ankle contracture Upper limb undergrowth Weak cry Deep venous thrombosis Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Abnormal myelination Female hypogonadism Pontocerebellar atrophy Type I transferrin isoform profile Uplifted earlobe Orbital cyst Inferior vermis hypoplasia Small scrotum Prolonged partial thromboplastin time Reduced protein C activity Abnormal macular morphology Aplasia/Hypoplasia of the corpus callosum Craniosynostosis Short middle phalanx of finger Finger syndactyly Talipes equinovarus Toe syndactyly Severe muscular hypotonia Chorioretinal coloboma Plagiocephaly Proximal placement of thumb Abnormal vertebral morphology High myopia Renal hypoplasia Postaxial polydactyly Bifid uvula Retinal dystrophy Microcornea Bifid scrotum Anophthalmia Microglossia Microphthalmia Reduced antithrombin III activity Sclerocornea Adrenal hypoplasia Iris coloboma Reduced protein S activity Cleft palate Blindness Anemia Hypothyroidism Postaxial foot polydactyly Micropenis Foot polydactyly Retinal coloboma Retrognathia Broad palm Polydactyly Preaxial hand polydactyly Genu valgum Coma Dolichocephaly Hypohidrosis Dental crowding Hepatitis Tall stature Hepatic failure Sleep disturbance Vesicoureteral reflux Thick eyebrow Hypermetropia Nausea and vomiting Abnormality of the pinna Long eyelashes Respiratory tract infection Aggressive behavior Hydronephrosis Intellectual disability, moderate Autism Abnormality of the genital system Immunodeficiency Obesity Hyporeflexia Diarrhea Lymphedema Accelerated skeletal maturation Gait disturbance Palpebral edema Fulminant hepatic failure Hair-pulling Tongue thrusting Hyperorality Cerebellar cortical atrophy Episodic vomiting Periorbital fullness Heat intolerance Bruxism Abnormality of the periventricular white matter Arachnoid cyst Recurrent upper respiratory tract infections Poor eye contact Impaired pain sensation 2-3 toe syndactyly Cellulitis Hypoplastic toenails Broad-based gait Polycystic kidney dysplasia Short chin Large hands Abnormality of the outer ear Recurrent skin infections Atrial septal defect Tics Abnormality of cardiovascular system morphology Thin vermilion border Abnormality of the metacarpal bones Short long bone Wormian bones Gynecomastia Wide anterior fontanel Gingival overgrowth Bowing of the long bones Short phalanx of finger Mitral valve prolapse Delayed eruption of teeth Poor suck Cholelithiasis Broad forehead Short philtrum Wide mouth Joint stiffness Camptodactyly of finger Abnormal heart morphology Respiratory failure Glaucoma Hernia Congestive heart failure Short finger Acne Epicanthus Hyperplasia of the maxilla Cognitive impairment Cortical irregularity Anterior concavity of thoracic vertebrae Serpentine fibula Flexion contracture of finger Multiple skeletal anomalies Broad nail Broad clavicles Lumbar kyphosis Thoracolumbar kyphosis Vacuolated lymphocytes Flared metaphysis Anterior segment developmental abnormality Buphthalmos Genu recurvatum Premature loss of teeth Aseptic necrosis Congenital glaucoma Underdeveloped supraorbital ridges Dislocated radial head Tricuspid regurgitation Delayed cranial suture closure Metatarsus adductus Increased variability in muscle fiber diameter Sleep-wake cycle disturbance Trigonocephaly Abnormal cornea morphology Circumungual hyperkeratosis Agenesis of premolar Foot pain Autoamputation Ainhum Abnormality of the gingiva Palmoplantar hyperhidrosis Subungual hyperkeratosis Abnormal oral mucosa morphology Skin fissure Trichorrhexis nodosa Alopecia universalis Abnormality of the tongue Hidrotic ectodermal dysplasia Amniotic constriction ring Hypergranulosis Generalized osteoporosis Ankylosis Anal fissure Fine, reticulate skin pigmentation Parakeratosis Abnormality of movement Mask-like facies Postural tremor Involuntary movements Apraxia Hypopigmentation of the skin Abnormal cerebellum morphology Aplastic anemia Pulmonic stenosis Congenital cataract Short telomere length Neurological speech impairment Muscular hypotonia of the trunk Reduced visual acuity Nail pits Ridged fingernail Reticulated skin pigmentation Leukocoria Exudative retinopathy Dysarthria Pili torti Plantar hyperkeratosis Slurred speech Infantile spasms Hyperhidrosis Hyperkeratosis Erythema Alopecia Delayed skeletal maturation Neoplasm Limb joint contracture Abnormal hair pattern Overlapping toe Ranula Abnormality of the hip bone Renal hypoplasia/aplasia Intellectual disability, progressive Generalized hirsutism Spastic tetraplegia Tetraplegia Tapered finger X-linked inheritance Carcinoma Pruritus Neoplasm of the lung Inflammatory abnormality of the skin Anhidrosis Curly hair Squamous cell carcinoma Melanoma Mutism Neoplasm of the skin Cutis laxa Abnormality of the fingernails Opacification of the corneal stroma Carious teeth Skin ulcer Hypotrichosis Epidermal acanthosis Ectodermal dysplasia Spasticity Hypodontia Palmoplantar keratoderma Papule Ichthyosis Bilateral ptosis Hearing abnormality Venous thrombosis Nasolacrimal duct obstruction Abnormality of the septum pellucidum Thickened ears Talipes cavus equinovarus Prominent protruding coccyx Broad chin Caesarian section Short digit Thickened helices Gait imbalance Myopathy Oral-pharyngeal dysphagia Depressed nasal tip Aplasia cutis congenita Spastic diplegia Chronic otitis media Delayed gross motor development Abnormality of metabolism/homeostasis Reduced tendon reflexes Hypertonia Hypertension Eczema Small hand Decreased liver function Abnormality of vision Hemangioma Knee flexion contracture Telangiectasia Truncal ataxia Intention tremor Delayed myelination Dysmetria Infantile onset Muscular dystrophy Prominent nasal bridge Abnormality of the eye Apnea Abnormal pyramidal sign Progressive Recurrent infections Respiratory distress Edema Cerebellar vermis hypoplasia Abnormality of eye movement Aniridia Bone marrow hypocellularity Growth hormone deficiency Waddling gait Abnormality of the cerebral white matter Hepatosplenomegaly Thrombocytopenia Hyperpigmentation of the skin Purpura Fever Muscle weakness Rhizomelia Frontal cortical atrophy Craniofacial asymmetry Mydriasis Abnormality of the pulmonary artery Scanning speech Broad distal phalanx of finger Speech apraxia Hypoplasia of the iris Hypoplasia of the fovea Depressed nasal ridge Epiphyseal dysplasia Joint hypermobility Dysphagia Long face Attention deficit hyperactivity disorder Anxiety Postnatal growth retardation Thin upper lip vermilion X-linked recessive inheritance Congenital onset Dystonia Short neck Hoarse voice Cerebral calcification Unexplained fevers Diaphyseal dysplasia Premature skin wrinkling Broad neck Protruding tongue Amelogenesis imperfecta Shock Metaphyseal dysplasia Recurrent pyelonephritis



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Other signs and symptoms that you may find interesting

Abnormality of the skeletal system and Retinal dystrophy, related diseases and genetic alterations Myopia and Cerebral atrophy, related diseases and genetic alterations