Abnormality of the skeletal system, and Tapered finger

Diseases related with Abnormality of the skeletal system and Tapered finger

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Tapered finger that can help you solving undiagnosed cases.


Top matches:

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2


Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 Is also known as hsan2|autosomal recessive sensory radicular neuropathy|hereditary sensory and autonomic neuropathy type ii|neurogenic acroosteolysis

Related symptoms:

  • Skeletal muscle atrophy
  • Hyperhidrosis
  • Hyperlordosis
  • Tapered finger
  • Abnormality of epiphysis morphology


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Low match SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME


Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

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Other less relevant matches:

Low match SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS


Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Low match BASAN SYNDROME


Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Related symptoms:

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BASAN SYNDROME

Low match OTOFACIOCERVICAL SYNDROME 2; OTFCS2


Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX


Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

Low match CEREBELLAR-FACIAL-DENTAL SYNDROME


Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Low match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Low match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Tapered finger

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly Scoliosis Microcephaly Hearing impairment

Rare Symptoms - Less than 30% cases


Dental malocclusion Downslanted palpebral fissures Feeding difficulties Hypertelorism Low-set ears Visual impairment Syndactyly Cutaneous syndactyly Frontal bossing Cerebellar hypoplasia Abnormal facial shape Psychosis Strabismus Failure to thrive Hyperhidrosis Macrodontia of permanent maxillary central incisor Ptosis Autoimmunity Paralysis Respiratory tract infection Apnea Rigidity Proximal muscle weakness Respiratory distress Polyhydramnios Dysarthria Dyspnea Fever Respiratory failure Dysphagia Muscle weakness Skeletal muscle atrophy Laryngeal stridor Ventriculomegaly Chorea Hypsarrhythmia Choreoathetosis Increased body weight Short chin Athetosis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Short neck Hypoplasia of the pons Hypoplasia of the corpus callosum Sparse hair Poor speech Fine hair Sparse and thin eyebrow Laryngomalacia Sparse eyebrow Stridor Slender long bone Taurodontia Arthrogryposis multiplex congenita Aspiration Ophthalmoplegia Micrognathia Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Muscle specific kinase antibody positivity Single fiber EMG abnormality Spasticity EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Delayed speech and language development Cerebral atrophy Macrotia Proteinuria Arachnodactyly Stage 5 chronic kidney disease Polymicrogyria Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Abnormality of the thymus Type 2 muscle fiber atrophy Paresthesia Rheumatoid arthritis Hemolytic anemia Generalized muscle weakness Cyanosis Hepatitis Diplopia Aggressive behavior Respiratory insufficiency due to muscle weakness Easy fatigability Systemic lupus erythematosus Poor suck Ophthalmoparesis Myositis Bulbar palsy Glycosuria Abnormality of the immune system Weak cry Hyperthyroidism Fatigable weakness Primary adrenal insufficiency Hashimoto thyroiditis Acrocyanosis Raynaud phenomenon Hypermetropia Mixed hearing impairment Anxiety Hitchhiker thumb Sensorineural hearing impairment Severe short stature Synophrys Split hand Low anterior hairline Abnormality of the nail Split foot Moderate hearing impairment Aplasia of the 2nd finger Obsessive-compulsive behavior Muscular hypotonia Kyphosis Abnormality of cardiovascular system morphology Obesity Depressivity Pectus excavatum Pectus carinatum Wide nose Everted lower lip vermilion Visual field defect Cerebral visual impairment Large hands Abnormality of the knee Hyperlordosis Abnormality of epiphysis morphology Wormian bones Osteolysis Reduced bone mineral density Abnormality of the hip bone Dystrophic toenail Dystrophic fingernails Abnormal cortical bone morphology Abnormality of the ankles Optic disc pallor Foot acroosteolysis Nystagmus Epicanthus Optic atrophy Anteverted nares Upslanted palpebral fissure Reduced visual acuity Protruding ear Prominent nasal bridge Oligodontia Bipolar affective disorder Acidosis Microretrognathia Cutaneous syndactyly of toes Adermatoglyphia Retrognathia Intellectual disability, moderate Carious teeth Gliosis Blue sclerae Long eyelashes Scapular winging Aplasia cutis congenita Cupped ear Preauricular pit Down-sloping shoulders Lacrimal duct stenosis Alacrima Mastoiditis High palate Behavioral abnormality Brachycephaly Amniotic constriction ring Skin vesicle Anodontia Ectodermal dysplasia Flexion contracture Hyperkeratosis Camptodactyly Scarring Skin rash Papule Nail dystrophy Single transverse palmar crease Palmoplantar keratoderma Abnormal blistering of the skin Hypermelanotic macule Epidermal acanthosis Interphalangeal joint contracture of finger Thin skin Thickened skin Hypohidrosis Abnormal dermatoglyphics Overfolded helix Epiphora Milia Diffuse mesangial sclerosis



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