Microcephaly, and Camptodactyly of finger

Diseases related with Microcephaly and Camptodactyly of finger

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

Top matches:

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Medium match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Other less relevant matches:

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.

LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME Is also known as morse-rawnsley-sargent syndrome

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Short neck


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Medium match COFS SYNDROME

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

COFS SYNDROME Is also known as cerebrooculofacioskeletal syndrome|pena-shokeir syndrome type 2

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about COFS SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Camptodactyly of finger

Symptoms // Phenotype % cases
Interphalangeal joint contracture of finger Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Camptodactyly of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Joint stiffness Intellectual disability Scoliosis Hearing impairment Growth delay Camptodactyly Microphthalmia Cataract Generalized hypotonia Short stature

Rare Symptoms - Less than 30% cases

Deeply set eye Hand clenching Visual impairment Spastic paraplegia Everted lower lip vermilion Feeding difficulties in infancy Flexion contracture Wide nasal bridge Rocker bottom foot Muscular hypotonia Hyperreflexia Sloping forehead Anteverted nares Ventriculomegaly Abnormality of cardiovascular system morphology Intellectual disability, mild Aplasia/Hypoplasia of the cerebellum Clinodactyly of the 5th finger Hyperactive deep tendon reflexes Low-set ears Short neck Arthrogryposis multiplex congenita Blepharophimosis Cerebral cortical atrophy Adducted thumb Sensorineural hearing impairment High palate Cutaneous photosensitivity Prominent metopic ridge Aplasia/Hypoplasia of the corpus callosum Arachnodactyly Severe global developmental delay Narrow chest Abdominal distention Prominent nasal bridge Broad forehead Abnormality of the pleura Low-set, posteriorly rotated ears Renal hypoplasia/aplasia Atelectasis White hair Limitation of joint mobility Decreased fetal movement Holoprosencephaly Abnormal dermatoglyphics Multiple joint contractures Umbilical hernia Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormality of the upper limb Hydranencephaly Enlarged thorax Abnormality of the diencephalon Cleft palate Vesicoureteral reflux Depressed nasal bridge Round face Delayed CNS myelination Narrow forehead Cerebellar vermis hypoplasia Thick lower lip vermilion Wide anterior fontanel Global brain atrophy Prominent occiput Poor eye contact Widow's peak Interrupted aortic arch Brain atrophy Peripheral neuropathy Optic atrophy Hypertonia Hypogonadism Talipes Cerebral calcification Abnormality of retinal pigmentation Reduced tendon reflexes Abnormality of immune system physiology Dandy-Walker malformation Sepsis Aganglionic megacolon Ventricular septal defect Hydroureter Anonychia Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Megacystis Hypertelorism Abnormal facial shape Acrocyanosis Hypoplasia of the corpus callosum High, narrow palate Cerebral atrophy Posteriorly rotated ears Prominent forehead Polyhydramnios Gastroesophageal reflux Muscular hypotonia of the trunk Cleft lip Abnormality of the pinna Abnormal cardiac septum morphology Abnormality of finger Kyphoscoliosis Tracheomalacia Macrocephaly Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Strabismus Spasticity Cognitive impairment Delayed speech and language development Gait disturbance Camptodactyly of toe Talipes equinovarus Hydrocephalus Kyphosis Babinski sign Agenesis of corpus callosum Pes cavus Abnormality of the nervous system Osteochondroma Ectopia lentis Paraplegia Microretrognathia Intellectual disability, severe Autism Intellectual disability, moderate Autistic behavior Hip dislocation Hip dysplasia Absence seizures Hammertoe Joint contracture of the hand Knee dislocation Atypical absence seizures Myopia Pectus excavatum Craniosynostosis Bilateral sensorineural hearing impairment High myopia Tall stature Hyperlordosis Lumbar hyperlordosis Synostosis of carpal bones Large beaked nose Severe postnatal growth retardation Micropenis Sparse hair Congenital cataract Single transverse palmar crease Convex nasal ridge Scrotal hypoplasia Downslanted palpebral fissures Abnormal lung lobation Atrial septal defect Telecanthus Thick eyebrow Abnormality of the face Tented upper lip vermilion Narrow nasal bridge Cutaneous finger syndactyly Severe intrauterine growth retardation Abnormal joint morphology Muscle stiffness Aqueductal stenosis Paraparesis Spastic paraparesis Hemiplegia/hemiparesis Aphasia Progressive spasticity Down-sloping shoulders Shuffling gait Severe hydrocephalus Short chin Failure to thrive Cryptorchidism Clinodactyly Small for gestational age Abnormality of the foot Oral cleft Prominent nose Finger clinodactyly Abnormal nasal morphology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Primary amenorrhea, related diseases and genetic alterations Feeding difficulties and Umbilical hernia, related diseases and genetic alterations Dysarthria and Facial palsy, related diseases and genetic alterations Spasticity and Paresthesia, related diseases and genetic alterations Sensorineural hearing impairment and Abnormal blistering of the skin, related diseases and genetic alterations