Growth delay, and Tapered finger

Diseases related with Growth delay and Tapered finger

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

Top matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

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

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

Other less relevant matches:

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Top 5 symptoms//phenotypes associated to Growth delay and Tapered finger

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Generalized hypotonia Low-set ears Abnormality of cardiovascular system morphology Visual impairment Delayed speech and language development Spasticity High palate Hypertelorism

Rare Symptoms - Less than 30% cases

Cerebral visual impairment Brachycephaly Chorea Hypsarrhythmia Macrocephaly Macrotia Epicanthus Strabismus Cerebral atrophy Epileptic encephalopathy Short palm Cerebellar hypoplasia Abnormal facial shape Feeding difficulties Hearing impairment Hypoplasia of the corpus callosum Alopecia Abnormality of the nail Frontal bossing Clinodactyly Obesity Muscular hypotonia Palmoplantar hyperkeratosis Scaling skin Hypermelanotic macule Macule Irregular hyperpigmentation Abnormality of the testis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Cavum septum pellucidum Thoracolumbar scoliosis Irregular vertebral endplates Thoracic scoliosis Neoplasm of the skin Short foot Generalized hirsutism Corneal opacity Hyperkeratosis Weight loss Erythema Protruding ear Skin rash Abnormality of dental eruption Pruritus Rhizomelia Dry skin Palmoplantar keratoderma Abnormal blistering of the skin Epidermal acanthosis Cutaneous photosensitivity Hypertrichosis Thickened skin Abnormality of the hair Waddling gait EEG abnormality Abnormality of the pinna Joint laxity Myopia Dilatation Depressed nasal bridge Clinodactyly of the 5th finger Autism Autistic behavior Focal motor seizures Misalignment of teeth Prominent nasal bridge Narrow nose Bulbous nose Polyphagia Microretrognathia Round face Nystagmus Muscle fibrillation Full cheeks Abnormality of movement Flexion contracture Blindness Absent speech Kyphoscoliosis Developmental regression Irritability Lethargy Hirsutism Nephrocalcinosis Inability to walk Generalized myoclonic seizures Delayed myelination Intellectual disability, profound Aciduria Genu valgum Glaucoma Tetraparesis Toe syndactyly Diabetes mellitus Increased body weight Failure to thrive Behavioral abnormality Acidosis Anxiety Aggressive behavior Hypermetropia Choreoathetosis Short chin Bipolar affective disorder Athetosis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Ventriculomegaly Short neck Sparse hair Anodontia Large hands Dental malocclusion Hitchhiker thumb Sensorineural hearing impairment Severe short stature Synophrys Split hand Low anterior hairline Split foot Moderate hearing impairment Aplasia of the 2nd finger Oligodontia Downslanted palpebral fissures Kyphosis Depressivity Pectus excavatum Pectus carinatum Wide nose Everted lower lip vermilion Psychosis Poor speech Fine hair Hyperhidrosis Progressive cerebellar ataxia Dysarthria Wide nasal bridge Syndactyly Encephalopathy Gait ataxia Dysmetria Small hand Generalized-onset seizure Cognitive impairment Narrow forehead Diplopia Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Cataract Brachydactyly Motor delay Ptosis Sparse and thin eyebrow Macrodontia of permanent maxillary central incisor Laryngomalacia Sparse eyebrow Stridor Slender long bone Taurodontia Hypoplasia of the pons Laryngeal stridor Micrognathia Ataxia Proteinuria Arachnodactyly Stage 5 chronic kidney disease Polymicrogyria Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Diffuse mesangial sclerosis D-2-hydroxyglutaric aciduria


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