Hearing impairment, and Dolichocephaly

Diseases related with Hearing impairment and Dolichocephaly

In the following list you will find some of the most common rare diseases related to Hearing impairment and Dolichocephaly that can help you solving undiagnosed cases.

Top matches:

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Other less relevant matches:

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

Low match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Low match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Low match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Top 5 symptoms//phenotypes associated to Hearing impairment and Dolichocephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hearing impairment and Dolichocephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Downslanted palpebral fissures Strabismus Wide nasal bridge Hypertelorism Optic atrophy Epicanthus Anteverted nares Frontal bossing Malar flattening Respiratory distress Deeply set eye High palate Low-set ears Ptosis Muscular hypotonia Agenesis of corpus callosum High forehead Respiratory insufficiency Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Flexion contracture Talipes equinovarus Peripheral neuropathy Umbilical hernia Ataxia Severe global developmental delay Low-set, posteriorly rotated ears Macrocephaly Visual impairment Generalized hypotonia Abnormality of vision Polyneuropathy Areflexia Conductive hearing impairment Abnormality of the eye Macrotia Sleep disturbance Depressed nasal bridge Failure to thrive Microcephaly Hyperactivity Scaphocephaly Atresia of the external auditory canal Prominent forehead Hydrocephalus Abnormality of the skeletal system Feeding difficulties Micrognathia Clinodactyly of the 5th finger Neonatal hypotonia Shallow orbits Dental malocclusion Dental crowding Sleep apnea Hip dislocation Full cheeks Motor delay Craniosynostosis Scoliosis Pes planus Hypotelorism Midface retrusion Bilateral sensorineural hearing impairment Fatigue Hypertrichosis Dense calvaria Sagittal craniosynostosis Cellular metachromasia Immunodeficiency Ovoid thoracolumbar vertebrae Thickened ribs Cloverleaf skull Delayed speech and language development Gonadoblastoma Choanal stenosis Coronal craniosynostosis Abnormality of the skull Ventricular extrasystoles Turricephaly Thick eyebrow Melanocytic nevus Long eyelashes Renal dysplasia Keratitis Vesicoureteral reflux Gonadal dysgenesis Bulbous nose Heparan sulfate excretion in urine Nausea and vomiting Hypermetropia Autistic behavior Hydronephrosis Syringomyelia Gastroesophageal reflux Papilledema Obesity Motor deterioration Lambdoidal craniosynostosis Multiple suture craniosynostosis Optic disc hypoplasia Narrow internal auditory canal Hepatomegaly Dysphagia Diarrhea Behavioral abnormality Splenomegaly Hernia Rod-cone dystrophy Kyphoscoliosis Coarse facial features Hepatosplenomegaly Respiratory tract infection Joint stiffness Synophrys Asymmetric septal hypertrophy Craniofacial dysostosis Lymphedema Dysostosis multiplex Loss of speech Restlessness Recurrent upper respiratory tract infections Coarse hair Abnormality of the cervical spine Dysgerminoma Short upper lip Growth abnormality Abnormality of the nasopharynx Everted lower lip vermilion Abnormal sacrum morphology Hirsutism Hypohidrosis Sacral dimple Pointed chin Short palpebral fissure Choanal atresia Rocker bottom foot Patent foramen ovale Amblyopia Redundant skin Plagiocephaly Interphalangeal joint contracture of finger Mild short stature Mitral valve prolapse Triangular face Small hand Smooth philtrum Facial asymmetry Camptodactyly of finger Tricuspid regurgitation Primary amenorrhea Abnormality of the pinna Proptosis Abnormality of nervous system morphology Anteriorly placed anus Headache Cerebellar hypoplasia External genital hypoplasia Brachycephaly Mandibular prognathia Amenorrhea Cleft lip Delayed puberty Thoracic hypoplasia Iris coloboma Hypoplasia of the maxilla Convex nasal ridge Wide mouth Joint laxity Accelerated skeletal maturation Arachnoid cyst Growth delay Recurrent pyelonephritis Hair-pulling Arnold-Chiari malformation Cerebellar cortical atrophy Bruxism Palpebral edema Intrauterine growth retardation Impaired pain sensation Hypoplastic toenails Large hands Trigonocephaly Recurrent skin infections Secundum atrial septal defect Cleft palate Hypopigmented skin patches Thin upper lip vermilion Patent ductus arteriosus Upslanted palpebral fissure Narrow palate Perisylvian polymicrogyria Abnormal heart morphology Conjunctivitis Acanthosis nigricans Torticollis Ventricular septal defect Abnormality of cardiovascular system morphology Long philtrum Short nose Intellectual disability, mild Atrial septal defect Increased intracranial pressure Ventriculomegaly Diffuse palmoplantar keratoderma Scapulohumeral synostosis Abnormal corpus callosum morphology Renal phosphate wasting Developmental regression EEG abnormality Abnormality of metabolism/homeostasis Hyperreflexia Cataract Nystagmus Hypophosphatemic rickets Abnormality of movement Abnormality of the lower limb Spinal canal stenosis Osteomalacia Hyperparathyroidism Hypophosphatemia Bowing of the legs Rickets Abnormality of the liver Retinal dystrophy Elevated alkaline phosphatase Primary adrenal insufficiency Hyporeflexia Pectus excavatum Skeletal muscle atrophy Muscle weakness Elevated long chain fatty acids Polar cataract Adrenal insufficiency High, narrow palate Abnormality of neuronal migration Abnormal palate morphology Bilateral single transverse palmar creases Wide anterior fontanel Decreased liver function Abnormality of retinal pigmentation Esotropia Hypercalciuria Coxa vara Respiratory failure Gingival overgrowth Anonychia Congenital sensorineural hearing impairment Triphalangeal thumb Abnormality of the hand Reduced number of teeth Oligodontia Small nail Abnormality of digit Nail dysplasia Ectodermal dysplasia Short distal phalanx of finger Joint hypermobility Toe syndactyly Nail dystrophy Brachydactyly Agenesis of permanent teeth Aplasia cutis congenita Bone pain Pain Generalized muscle weakness Muscle cramps Delayed eruption of teeth Genu valgum Carious teeth Arthritis Bilateral triphalangeal thumbs Severe sensorineural hearing impairment Hidrotic ectodermal dysplasia Absent toenail Anhidrotic ectodermal dysplasia Selective tooth agenesis Hypoplasia of teeth High-frequency hearing impairment Conical tooth Pes cavus Skeletal dysplasia Abnormality of peripheral nerve conduction Dislocated radial head Intellectual disability, severe Hypoplasia of the corpus callosum Delayed ossification of pubic rami Hypoplastic ilia Hypoplastic scapulae Short humerus Preauricular pit Hypogonadism Proximal placement of thumb Abnormality of the genitourinary system Rhizomelia Talipes Broad forehead Narrow mouth Microphthalmia Congestive heart failure Proteinuria Bilateral vocal cord paresis Pachygyria Cortical dysplasia Palmoplantar hyperkeratosis Poor head control Intellectual disability, progressive Short chin Progressive microcephaly Depressed nasal ridge Stroke Nephrotic syndrome Palmoplantar keratoderma Polymicrogyria Long face Ichthyosis Abnormality of eye movement Prominent nasal bridge Cryptorchidism Decreased distal sensory nerve action potential Difficulty walking Urinary incontinence Knee flexion contracture Congenital hip dislocation Foot dorsiflexor weakness Hoarse voice Sensorimotor neuropathy Tetraparesis Sensory neuropathy Spinal muscular atrophy Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Limb muscle weakness Distal muscle weakness Paralysis Apnea Dysphonia Stridor Intercostal muscle weakness Progressive peripheral neuropathy Bilateral vocal cord paralysis Hand muscle atrophy Vocal cord paresis Diaphragmatic weakness Shoulder girdle muscle atrophy Abducens palsy Inspiratory stridor Hammertoe Oculomotor nerve palsy Hand muscle weakness Vocal cord paralysis Down-sloping shoulders Obstructive sleep apnea Wheezing Urinary urgency Cartilaginous trachea


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